sickle cell anemia case study class 12

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Case history of a child with sickle cell anemia in India

A three years old male child, native of Jharkhand, Central India presented with mild pallor, icterus, and history of on and off abdominal and joint pains. On examination the child had mild splenomegaly. He had history of two prior hospital admissions. First at the age of 1 year, when he was diagnosed to have pneumonia and second, at the age of 3 years (3 months prior to coming to our institution) for fever, anemia and jaundice. He has had three transfusions till now, last transfusion was 3 months back. There is history of sibling death at 5 years of age due to fever and jaundice.

The hemogram showed anemia with leukocytosis. Red cell morphology (Figure 1) revealed severe anisopoikilocytosis with macrocytes, microcytic hypochromic red cells, target cells, many boat cells, sickled RBCs, polychromatic cells and occasional nucleated RBCs. Results of the automated blood cell counts showed Hb 7.7 g/dl, RBC 2.44 x 109/l, MCV 97.1 fl, MCH 31.4 pg, MCHC 32.3 g/dl, RDW 26.6%. There were occasional nucleated red cells and relative neutrophilia. Further to confirm HbS, a sickling test using freshly prepared 2% sodium meta-bisulphite was performed which was positive (Figure 2).

Hemoglobin HPLC on Bio-Rad Variant 2 showed raised fetal hemoglobin (HbF) and a variant peak in S window (71.9%) at retention time of 4.36 mins. Adult Hb (HbA) of 8.5% was noted (Figure 3). Figure 4 shows Cellulose acetate hemoglobin electrophoresis at alkaline pH (8.6), which showed a prominent band in S/D/G region and a faint band in F region. Investigations of the father showed also showed a variant peak in S window (32.9%) at retention time of 4.36 mins along with HbA (57.1%) on HPLC with Bio-Rad Variant II which is diagnostic of Sickle cell trait (Figure 5).

Sickle cell disease (SCD) is the most common symptomatic hemoglobinopathy caused as a result of inheritance of two copies of the sickle β-globin gene variant (βS). A single nucleotide substitution leading to replacement of glutamic acid by valine at position 6 of the β-globin polypeptide chain leads to formation of HbS which is responsible for disease manifestation.  SCD has a wide geographical distribution throughout major parts of Africa, the Middle East, India and in some regions of Mediterranean countries. In India, it is mainly concentrated in the central region including parts of Madhya Pradesh, Chattisgarh, Orissa, Maharashtra, Gujrat and Jharkhand. HbS has carrier frequencies varying from 5 to 35% and are especially seen amongst the scheduled tribes, scheduled castes and other backward castes.

Sickle cell mutation is believed to be originated five times in history spontaneously. This can be elucidated by five βS-globin haplotypes. These haplotypes include Senegal (SEN), Benin (BEN), Bantu or the Central African Republic (CAR), Cameroon (CAM) and Arab-Indian (ARAB). They enable us to understand the origin, evolution, migration and natural selection of genetic defects. They can be identified by specific restriction sites within the β-globin gene cluster. Different haplotypes are known to have different HbF levels. Senegal and Arab-Indian haplotypes have higher HbF levels when compared to other haplotypes. However, recently a study has investigated the origins of the sickle mutation by using whole-genome-sequence data to conclude that there might be single origin of sickle allele.

LEARNING POINTS

1.    Sickle cell disease (SCD) is the most common symptomatic hemoglobinopathy in the world, largely seen in parts of Africa, the Middle East, India and in some regions of Mediterranean countries.

2.    SCA is a monogenic disorder with an autosomal recessive inheritance. The parents are clinically asymptomatic and have normal blood counts. They are usually diagnosed incidentally or as a result of family studies in SCA patients.

3.    Neonates are asymptomatic due to high HbF, but symptoms begin to appear by six months of age. Many infants present with lethal complications at first presentation. This emphasizes the importance of newborn screening in these susceptible pre-symptomatic cases in endemic regions.

4.    SCA has a variable clinical course amongst different individuals depending upon various genetic determinants like βs haplotype, factors affecting HbF levels and co-inheritance of other disease modifying factors.

5.    Diagnosis mainly relies upon identification of HbS (by any of the following HPLC, Hb Electrophoresis, Iso-electric focusing or sickling test). Once HbS is identified, it has to be validated by alternative method.

6.    Treatment of sickle cell disease generally aims at relieving symptoms and preventing infections, sickle cell crises and long-term complications. Stem cell transplant is the only potential cure available presently.

HPLC pattern of the index case with sickle cell anemia showing HbS and HbF peaks.

Hemoglobin electrophoresis at alkaline pH. Black arrow shows the index case with HbS and HbF bands.

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Case Study: Sickle Cell Disease A 25-Year-Old in Transition

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A 25-year-old woman with a history of sickle cell disease (SCD) presents to the clinic for follow-up after a hospitalization for a vaso-occlusive pain crisis complicated by influenza A. She has a history of an acute ischemic stroke at age 5 years and has received monthly, simple red cell transfusions since the stroke. Her last transfusion was approximately four months prior. She is taking deferasirox 20 mg/kg daily but occasionally misses doses.

Laboratory results show the following:

Which of the following is the next best step in diagnosis

• Restart scheduled red blood cell transfusions
• Start prophylactic penicillin
• Discontinue transfusions and start hydroxyurea
• Order transcranial doppler ultrasonography (TCD) to assess risk of stroke
• Increase dose of deferasirox to 25 mg/kg/day

Explanation

The incidence of primary stroke in children with SCD is 0.6 to 0.8 events per 100 patient-years, with a cumulative incidence of 7.8 percent by age 14 years in the Jamaican cohort and 11 percent by age 20 years in the U.S. Cooperative Study of Sickle Cell Disease. Once stroke has occurred, the incidence of recurrent (secondary) stroke ranges from 47 to 93 percent in patients not started on regular transfusions. The Stroke Prevention Trial in SCD (STOP) randomized 130 high-risk children with SCD to either transfusion therapy (to maintain HbS 30%) or observation. These high-risk children had an increased blood flow in the internal carotid or middle cerebral artery by TCD. This study showed a 92 percent reduction in incidence of first stroke in transfused high-risk patients. A follow-up study, STOP2, randomly assigned 72 children whose TCD had normalized after 30 months of transfusion therapy to either ongoing or discontinued transfusions. The study was closed early due to a significant increase in abnormal TCD velocity and stroke risk for those who halted transfusion therapy.

The multicenter phase III TWiTCH trial evaluated children with SCA and abnormal TCD velocities without a history of stroke on chronic transfusions. Data showed that hydroxyurea at maximal tolerated dose was noninferior to chronic transfusions for maintaining TCD velocities as primary stroke prophylaxis (choice C). This patient has a history of ischemic stroke, so the results of TWiTCH do not apply to her.

The Stroke with Transfusions Changing to Hydroxyurea (SWiTCH) study was designed as a phase III multicenter trial to determine the efficacy of hydroxyurea/phlebotomy, compared with transfusions/chelation for children with SCA, stroke, and iron overload in secondary stroke prophylaxis. The primary endpoint was a composite of noninferiority for stroke prevention and superiority for reduction of liver iron content. The trial was terminated at the first scheduled interim analysis for futility for the composite endpoint, which required superiority of phlebotomy over iron chelation for reducing excess iron stores. The incidence of stroke on the hydroxyurea plus phlebotomy arm was higher (7 of 67 patients; 10.4%) than in the transfusion plus chelation arm (1 of 66 patients; 1.5%). These results, though not powered for inferiority, showed a trend towars increased stroke risk with transition to hydroxyurea. In patients with prior stroke, cessation of transfusion therapy is currently not recommended.

Whether chronic transfusion therapy can be stopped after a longer period of transfusions in a patient with a prior stroke remains unclear even though risk of recurrent stroke remains high in adolescence and young adulthood. In patients older than 16 years, TCD velocity criteria to determine stroke risk is not reliable (choice D).

In the Prophylaxis with Oral Penicillin in Children with Sickle Cell Anemia trial, children with SCA were randomly assigned to receive oral prophylactic penicillin or placebo PROPS 1986 ). The trial ended eight months early after the occurrence of 15 cases of pneumococcal sepsis, 13 in the placebo group and two in the penicillin group, showing an 84 percent reduction in pneumococcal sepsis with penicillin prophylaxis. The follow-up study, PROPS II, did not show an increased risk in pneumococcal infections with discontinuation of prophylactic penicillin after age 5 years. Therefore, prophylactic penicillin is not recommended in adults with SCA (choice B).

The trajectory of ferritin in this patient has not been established and an increase in oral iron chelation is not indicated at this time.

Case Study submitted by Marquita Nelson, MD, of University of Chicago, Chicago, IL.

• Hirst C, Owusu-Ofori S Prophylactic antibiotics for preventing pneumococcal infection in children with sickle cell disease . Cochrane Database Syst Rev. 2014 6:CD003427.
• Valadi N, Silva GS, Bowman LS, et al Transcranial Doppler ultrasonography in adults with sickle cell disease . Neurology. 2006 22:572-574.
• Ware RE, Davis BR, Schultz WH, et al Stroke with transfusions changing to hydroxyurea (SWiTCH) . Blood. 2012 119:3925-3932.
• Kumar N, Gross JB Jr, Ahlskog JE TCD with transfusions changing to hydroxyurea (TWiTCH): hydroxyurea therapy as an alternative to transfusions for primary stroke prevention in children with sickle cell anemia . Blood. 2015 126:3.

American Society of Hematology. (1). Case Study: Sickle Cell Disease A 25-Year-Old in Transition. Retrieved from https://www.hematology.org/education/trainees/fellows/case-studies/sickle-cell-disease-a-25-year-old-in-transition .

American Society of Hematology. "Case Study: Sickle Cell Disease A 25-Year-Old in Transition." Hematology.org. https://www.hematology.org/education/trainees/fellows/case-studies/sickle-cell-disease-a-25-year-old-in-transition (label-accessed May 02, 2024).

"American Society of Hematology." Case Study: Sickle Cell Disease A 25-Year-Old in Transition, 02 May. 2024 , https://www.hematology.org/education/trainees/fellows/case-studies/sickle-cell-disease-a-25-year-old-in-transition .

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A case study: Sickle cell anemia

Sickle cell anemia is a genetic disease with severe symptoms, including pain and anemia. The disease is caused by a mutated version of the gene that helps make hemoglobin — a protein that carries oxygen in red blood cells. People with two copies of the sickle cell gene have the disease. People who carry only one copy of the sickle cell gene do not have the disease, but may pass the gene on to their children.

The mutations that cause sickle cell anemia have been extensively studied and demonstrate how the effects of mutations can be traced from the DNA level up to the level of the whole organism. Consider someone carrying only one copy of the gene. She does not have the disease, but the gene that she carries still affects her, her cells, and her proteins:

• There are negative effects at the whole organism level Under conditions such as high elevation and intense exercise, a carrier of the sickle cell allele may occasionally show symptoms such as pain and fatigue.
• There are positive effects at the whole organism level Carriers of the sickle cell allele are resistant to malaria, because the parasites that cause this disease are killed inside sickle-shaped blood cells.

This is a chain of causation. What happens at the DNA level propagates up to the level of the complete organism. This example illustrates how a single mutation can have a large effect, in this case, both a positive and a negative one. But in many cases, evolutionary change is based on the accumulation of many mutations, each having a small effect. Whether the mutations are large or small, however, the same chain of causation applies: changes at the DNA level propagate up to the phenotype .

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StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-.

StatPearls [Internet].

Sickle cell anemia (nursing).

Ankit Mangla ; Moavia Ehsan ; Nikki Agarwal ; Smita Maruvada ; Chaddie Doerr .

Affiliations

Last Update: September 4, 2023 .

• Learning Outcome
• Describe the presentation of sickle cell anemia
• List the complications of sickle cell anemia
• Summarize the management of sickle cell anemia
• Recall the sickle cell crisis
• Introduction

Sickle cell anemia is the most severe form of sickle cell disease and is the homozygous state for hemoglobin S. Sickle cell anemia is prevalent in Africa, the Middle East, and parts of India. It is common in geographical areas where malaria is widespread. Hemoglobin in most individuals is present in soluble form. However, in sickle cell disease, hemoglobin precipitates as insoluble crystals, leading to an abnormal shape and size of RBCs and subsequent phagocytosis of the affected corpuscles. [1] [2] [3]

• Nursing Diagnosis
• Pain- bone, chest, back, joints
• Tachycardia, tachypnea
• Shortness of breath
• Vision problems

A point mutation in the beta-globin chain of the hemoglobin causes sickle cell disease. Specifically, it occurs when a single base from A to T in the codon for glutamic acid at position 6 is changed to valine of the beta-globin. If this mutation affects both beta-globin chains, sickle cell anemia occurs; if only one chain is involved, it results in the sickle cell trait. [4]

• Risk Factors

This disease is predominantly present in individuals of African origin but also affects people of Middle Eastern, Indian, and Mediterranean descent. It is estimated that 1 in 13 children of African descent suffers from the sickle cell trait. Sickle cell disease affects 1 in 365 individuals of African descent; in America, about 100,000 individuals currently suffer from this disease. [5]

Sickle cell disease usually manifests after six months of age when fetal hemoglobin levels begin to fall. This timing occurs because fetal hemoglobin keeps the sickle cell hemoglobin in solubilized form. The most common presenting feature is vaso-occlusive crises. These vaso-occlusive crises may present in a variety of ways. Patients commonly complain of excruciating pain in the abdomen, thorax, joints, long bones, and digits. Some individuals may experience multiple episodes, while others may remain free of them for long periods of time. Signs and symptoms of anemia are also prevalent, including palpitations, fatigue, pallor, and tachycardia. Repeated vaso-occlusive crises may result in splenic infarctions and resultant functional asplenia. This asplenia results in repeated infections with encapsulated bacteria like Streptococcus pneumoniae , Staphylococcus aureus , and many others. These pathogens may cause life-threatening pneumonia and septicemia, which are usually fatal.

Vaso-occlusive crises of the digits present as dactylitis, where the finger becomes severely painful, red, hot, and swollen. Abdominal vaso-occlusion usually mimics the acute abdomen in pain severity. Acute chest syndrome may present as chest pain, cough, leukocytosis, tachypnea, and respiratory difficulty in young children. These may be fatal. Sickle cell anemia patients may also present with splenic sequestration crisis. This condition occurs when sickle-shaped cells get entangled in the splenic pulp, leading to severe anemia with a rapidly enlarging spleen. A stroke is the most critical central nervous system condition caused by sickle cell disease. Retinal hemorrhages with visual loss are also critical conditions.

Repeated cycles of hemolysis lead to increased pigment load. This increase results in pigmented stone formation in the gallbladder, inciting cholelithiases. Sickling in the renal vasculature causes isosthenuria, a condition where the kidneys lose their ability to concentrate the urine appropriately. It also occludes the penile vasculature, which causes a prolonged, painful erection known as priapism. Avascular necrosis of the long bones, particularly the head of the femur, is also a troublesome condition. It involves the slow and gradual destruction of the articular surface of the femoral head, which requires hemiarthroplasty to restore mobility.

Aplastic crises are another significant manifestation of sickle cell disease. Here, when the presence of parvovirus B19 challenges an already stressed bone marrow, it fails to generate the appropriate number of RBCs which results in severe anemia.

Newborns with a family positive for sickle cell disease should undergo a screening test. This screening test for sickle cell hemoglobin is mandatory in the United States. Prenatal diagnosis in genetically prone fetuses can be made using the chorionic villus sampling technique or amniocentesis. [6]

A complete blood count with a peripheral picture is the initial test. Here, a reduced RBC number, reduced reticulocyte count, variable mean corpuscular volume, increased leukocyte count, reduced ESR, and the presence of sickle-shaped cells in the periphery usually indicate the diagnosis of sickle cell disease. The presence of Howell-Jolly bodies indicates functional asplenia in the patient. Subsequent hemoglobin electrophoresis confirms the diagnosis of sickle cell disease if the concentration of sickle cell hemoglobin is more than 90% of the total hemoglobin and the fetal hemoglobin comprises the rest of the hemoglobin isotype. However, if the concentration of sickle cell hemoglobin is at or around 45%, it indicates the presence of the sickle cell trait rather than the disease itself.

A urine analysis should be performed to rule out a urinary tract infection as a cause of hematuria and identify isosthenuria in sickle cell disease patients.

If a patient presents to the emergency department with an acute vaso-occlusive episode and the diagnosis of sickle cell disease is not yet established, one can administer an instant sickling test which may test positive for sickle cell hemoglobin. However, this test has a limiting factor. It can not differentiate between heterozygous and homozygous states of sickle cell hemoglobin.

Arterial blood gases are required to monitor pulmonary functions in case of acute chest syndrome. Serial arterial blood gases shall be obtained to monitor the severity of the pulmonary crises.

A chest X-ray shall be performed in patients with respiratory signs and symptoms, but it may be normal in the early phase of acute chest syndrome. Plain radiography of the peripheries is used in identifying acute and subacute marrow infarctions, as well as observing old infarcts. In the case of osteomyelitis, early radiographs are not useful because they do not show significant changes. However, in the subsequent two weeks, the plain radiographs may reveal the destruction of the bone, periosteal bone formation, sinus tract, and sequestra.

MRI scans are paramount in diagnosing osteomyelitis and avascular necrosis of the femoral and humeral heads. Technetium-99 scans are also used to detect osteonecrosis.

• Medical Management

The treatment of sickle cell disease has seven major goals:

• Management of vaso-occlusive crises
• Management of chronic anemia
• Management of chronic pain
• Prevention of infections
• Prevention of complications
• Prevention of stroke
• Detection and treatment of pulmonary hypertension

Pharmacotherapy of sickle cell disease usually revolves around preventing its complications. Hydroxyurea is an antimetabolite known to increase the fetal hemoglobin levels in the circulation of RBCs; fetal hemoglobin keeps hemoglobin in soluble form and prevents polymerization of the sickle cell hemoglobin, thus preventing most complications of sickle cell disease. [7] [8] [9]

Opioids, NSAIDs, steroids, antiemetics, tricyclic antidepressants, and antibiotics are all used to cure or ameliorate the complications of the disease.

Vaccines, particularly against encapsulated bacteria, help prevent life-threatening infections as sickle cell disease patients are usually functionally asplenic. Folic acid supplementation prevents macrocytic anemia.

A bone marrow transplant is curative in sickle cell disease patients.

A blood transfusion, particularly in aplastic crises, is also essential.

• Nursing Management
• Check vitals
• Determine the degree of pain
• Assess hydration status
• Assess mental status
• Determine oxygenation
• Give pain medications
• Administer antibiotics as prescribed
• Administer blood transfusions
• Clean wounds
• Avoid restrictive clothing
• Encourage a healthy diet with folate supplements
• When To Seek Help
• Increasing shortness of breath
• Unstable or rapidly changing vital signs
• Increasing pain
• Increasing fever
• Outcome Identification
• Able to eat and drink
• Able to ambulate
• Normal mental status
• Normal vital signs
• Vital signs
• Oxygenation
• Pain intensity
• Coordination of Care

Sickle cell anemia is a severe genetic disorder with high morbidity and mortality. The disease usually manifests early in life and can present with several types of occlusive crises.

Screening for sickle cell anemia is mandatory at birth in the United States, allowing for early diagnosis and treatment. Because the disorder affects almost every organ system in the body, an interprofessional approach is necessary to ensure adequate treatment and prevent complications. However, as the population ages, chronic complications like pulmonary hypertension are emerging with very high morbidity and mortality. The consensus among experts is that sickle cell should be managed by an interprofessional group of healthcare professionals, including physical therapists, psychiatrists, social workers, nurses, pharmacists, substance abuse counselors, pain counselors, and rehabilitation specialists. [10] [11]  [Level 5] Anytime there is a fever, an infectious disease consult should be made promptly.

An orthopedic surgeon should be consulted for hip pain or difficulty with gait. A radiologist is essential for obtaining samples from bone if osteomyelitis is suspected. These patients need thorough eye exams by an ophthalmologist, and a urologist is needed to manage priapism.

Most of these patients are on many medications. The pharmacist plays a critical role in ensuring the patient remains compliant with medications and free from adverse drug effects.

The nurse should educate the patient on the importance of remaining hydrated, getting the right vaccinations, and ensuring follow-up with the respective healthcare providers.

The outcome for most sickle cell patients is mixed. The goal is to achieve an average lifespan with minimal morbidity and mortality. However, many of these individuals die prematurely despite improvements in treatment. The morbidity is very high, and nearly all individuals experience a vaso-occlusive crisis at some point in their lives. These patients often are not able to work due to their disability and live a poor quality of life with chronic pain. The leading causes of death are acute chest syndrome, pulmonary embolism, and infection. Outside of North America, the life expectancy of sickle cell patients is in the 30s and 40s. Many guidelines have been developed to manage sickle cell disease. They include penicillin prophylaxis for children, blood transfusions, and pneumococcal vaccination. The drug hydroxyurea has made it possible for patients to live longer than ever. [12]  [Level 5]

• Health Teaching and Health Promotion
• Educate about healthy diet and folate supplements
• Need to avoid triggers for sickling
• Get vaccinated
• Avoid smoking
• Avoid alcohol
• Avoid the use of illicit drugs like cocaine
• Apply warm compresses to areas of pain
• Keep hydrated
• Risk Management

Call a clinician if:

• Abnormal vitals
• Short of breath
• Intense pain
• Low oxygenation
• Unresponsive
• Hypotension
• Discharge Planning

The key to improved outcomes is patient education. The earlier one seeks medical help, the better the outcomes, and thus patients should seek help in the presence of:

• Abdominal or chest pain
• Persistent headache

At the same time, patients should avoid the following:

• Illicit drugs like cocaine
• Seeking care from multiple healthcare institutions

Patients should be urged to:

• keep hydrated
• Eat a healthy diet
• get immunized
• Take hydroxyurea as prescribed
• Follow up with a clinician
• Evidence-Based Issues

The patient should be educated about hydroxyurea since the evidence shows that the drug can reduce vaso-occlusive crises.

• Review Questions
• Access free multiple choice questions on this topic.
• Comment on this article.

Sickle Cell Anemia, Hemoglobin C Contributed by Ed Uthman (CC BY 2.0 https://creativecommons.org/licenses/by/2.0)

Disclosure: Ankit Mangla declares no relevant financial relationships with ineligible companies.

Disclosure: Moavia Ehsan declares no relevant financial relationships with ineligible companies.

Disclosure: Nikki Agarwal declares no relevant financial relationships with ineligible companies.

Disclosure: Smita Maruvada declares no relevant financial relationships with ineligible companies.

Disclosure: Chaddie Doerr declares no relevant financial relationships with ineligible companies.

This book is distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) ( http://creativecommons.org/licenses/by-nc-nd/4.0/ ), which permits others to distribute the work, provided that the article is not altered or used commercially. You are not required to obtain permission to distribute this article, provided that you credit the author and journal.

• Cite this Page Mangla A, Ehsan M, Agarwal N, et al. Sickle Cell Anemia (Nursing) [Updated 2023 Sep 4]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-.

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• Enhanced phagocytosis of ring-parasitized mutant erythrocytes: a common mechanism that may explain protection against falciparum malaria in sickle trait and beta-thalassemia trait. [Blood. 2004] Enhanced phagocytosis of ring-parasitized mutant erythrocytes: a common mechanism that may explain protection against falciparum malaria in sickle trait and beta-thalassemia trait. Ayi K, Turrini F, Piga A, Arese P. Blood. 2004 Nov 15; 104(10):3364-71. Epub 2004 Jul 27.
• Hemoglobin Genotypes Modulate Inflammatory Response to Plasmodium Infection. [Front Immunol. 2020] Hemoglobin Genotypes Modulate Inflammatory Response to Plasmodium Infection. Harp KO, Botchway F, Dei-Adomakoh Y, Wilson MD, Hood JL, Adjei AA, Stiles JK, Driss A. Front Immunol. 2020; 11:593546. Epub 2020 Dec 23.
• Compound Heterozygosity of β-Thalassemia and the Sickle Cell Hemoglobin in Various Populations of Chhattisgarh State, India. [Hemoglobin. 2018] Compound Heterozygosity of β-Thalassemia and the Sickle Cell Hemoglobin in Various Populations of Chhattisgarh State, India. Jha AN, Mishra H, Verma HK, Pandey I, Lakkakula BVKS. Hemoglobin. 2018 Mar; 42(2):84-90.
• Review Sickle Cell Disease. [GeneReviews(®). 1993] Review Sickle Cell Disease. Bender MA, Carlberg K. GeneReviews(®). 1993
• Review Overview of pathophysiology and rationale for treatment of sickle cell anemia. [Semin Hematol. 1997] Review Overview of pathophysiology and rationale for treatment of sickle cell anemia. Rodgers GP. Semin Hematol. 1997 Jul; 34(3 Suppl 3):2-7.

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From Gene to Disease: Sickle Cell Anemia

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• Describe how a mutation at one point in the DNA can change an organism’s phenotype.
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Frequently Asked Questions About Sickle Cell

What is sickle cell disease.

Sickle cell disease is an inherited disorder that affects red blood cells. People with sickle cell disease have red blood cells that become hard and pointed instead of soft and round. Sickle cells cause anemia, pain and many other problems.  

How is the disease diagnosed?

Sickle cell disease is diagnosed with a simple blood test. It most often is found at birth during routine newborn screening tests at the hospital. In addition, sickle cell disease can be diagnosed before birth.

What is sickle cell trait?

If you have sickle cell trait, you have inherited the gene for sickle cell disease. Sickle cell trait does not turn into sickle cell disease. If someone has sickle cell trait and his partner has sickle cell trait they may produce a child with sickle cell disease. There are about 2.5 million people in America with sickle cell trait.

If sickle cell trait is not an illness, why are people tested? 

Babies are tested to see if they have sickle cell disease. Teens and adults are tested mainly to see if they can have a baby with the disease.

What medical problems are caused by sickle cell disease?

Lung tissue damage, pain episodes and stroke. The blockage of blood flow caused by sickled cells also causes damage to most organs including the spleen, kidneys and liver.

How many people have sickle cell disease?

Sickle cell disease is a global health problem. In the United States it is estimated that over 80,000 people have sickle cell disease. About 1,000 babies are born with the disease each year in America.

What are the complications of sickle cell disease?

People with sickle cell disease start to have signs of the disease during the first year of life, usually around 5 months of age. Symptoms and complications of sickle cell disease are different for each person and can range from mild to severe. Pain is the most common complication of the disease and the top reason that people with sickle cell go to the emergency room or hospital. When sickle cells travel through small blood vessels, they can get stuck and clog the blood flow. This causes pain that can start suddenly, be mild to severe, and can last for any length of time.

How long does a person with sickle cell disease live?

The average life expectancy in America has improved. Patients now live into their late 40s and 50s with ongoing care.

Are people of African descent the only group affected?

No. It is also present in Portuguese, Spanish, French Corsicans, Sardinians, Sicilians, mainland Italians, Greeks, Turks and Cypriots. Sickle cell disease also appears in Middle Eastern countries and Asia.

Is there a cure?

There is no universal cure for sickle cell disease; however, with appropriate care individuals can live productive and healthy lives.

Difference between Sickle Cell Anaemia and Thalassemia

What is sickle cell anaemia.

Sickle-cell anaemia is a type of autosomal recessive genetic disorder, which is caused by the presence of a mutated form of haemoglobin, haemoglobin S (HbS). Sickle cell disease (SCD) causes significant morbidity and mortality and is mainly caused when the glutamic acid of haemoglobin molecules is replaced by valine.

According to Mendelian genetics, sickle-cell anaemia is an autosomal recessive disorder that can be caused by any of the following factors:

• Autosomal dominant
• Autosomal recessive
• Sex-linked dominant
• Sex-linked recessive

Sickle-cell anaemia is also called Mendelian disorder . In these conditions, the oxygen-binding capacity of the haemoglobin molecules is reduced and the mutant haemoglobin molecule undergoes changes in its shape from the biconcave shape to the sickle shape.

Explore more: Genetic Disorders

What is Thalassemia?

Thalassemia is an inherited blood disorder in which the body produces an abnormal amount of haemoglobin. This condition results in the destruction of a large number of red blood cells , which leads to anaemia. It is an X-linked recessive disease, which is transferred by one of the parents who is a carrier of this disease.

Explore more: Thalassemia

Let’s learn the differences between sickle cell anaemia and thalassemia.

Sickle Cell Anaemia and Thalassemia – Comparisons

Also Refer: Differences Between Turner Syndrome and Klinefelter Syndrome.

This article concludes an introduction to sickle cell anaemia and thalassemia and their differences.

Stay tuned to BYJU’S Biology to learn more in detail about the different types of infectious diseases, along with their causes, symptoms, and their treatments.

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