Around 10,000 new cases of sickle cell disease are reported every year in India and sadly, very few people know about this condition. Sickle cell anemia is a type of anemia affecting millions of people around the world, and is usually passed on from one generation to another. According to WHO, it is one of the main causes of premature death amongst children. In India as per ICMR survey, prevalence of sickle cell disease varies from 1-44.4% across various geographic zones of the country. Maximum number of cases are seen in the western and central India along with coastal Andhra. This disease has implications not only on the physical, and mental health of the affected individual, but also has an impact on the family as well. Onlymyhealth reached out to Dr. Manu Goyal, Medical Director Head of Hematopathology & Consultant Molecular Hematopathologist, Ampath to know more about sickle cell disease.
What is sickle cell disease?
Sickle cell disease is a genetic disease in which the gene that synthesizes hemoglobin is defective and forms abnormal hemoglobin. This abnormal hemoglobin in low oxygen states precipitates and crystallizes, and the normal discoid shape of the red cell is converted into a sickle shaped cell, hence the name. It depends on the number of genes affected by the disease. One gene sickle cell disease is called heterozygous and two-gene disease is called homozygous.
How is this disease caused?
Homozygous forms present with severe symptoms as with low hemoglobin or severe anemia, jaundice, bone pains, growth retardation and sometimes lead to fatal complications. Heterozygous forms are generally asymptomatic and may become symptomatic under stressful situations that cause reduction of oxygen. These include vigorous exercise, general anesthesia, travel in air, climbing mountains, and in low oxygenated states.
Diagnosis of sickle cell disease
What are the tests for diagnosis? Who and when should these tests be done? According to Dr. Goyal, HPLC or hemoglobin electrophoresis test is done to diagnose this disease and its type. Anyone can get tested for this but it is a must for pregnant women to get this test to find out if they have sickle cell disease that their unborn baby may carry. Besides, family members and close relatives of a person with sickle cell disease should also get themselves tested. Apart from the HPLC test, Sanger sequencing or PCR test also confirms if the person has this disease.
Management and Treatment
The management involves relieving symptoms and treating severe complications. That involves proper oxygenation, hydration, blood transfusions, and maintaining an appropriate acid-base balance. The heterozygotes are advised to avoid severe stress and less oxygenated states. A special care is advised when these patients have fever as this can precipitate sickling crisis. There is no definitive cure except hematopoietic stem cell transplantation for the severe forms.
Can it be prevented?
To prevent sickle cell disease, awareness is the first step.
- People should be educated about this condition and couples must get tested for genetic disorders before marriage.
- Preventing consanguineous marriage or marriage of two closely-related family members.
- Prospective parents must undergo screening tests at the right time. If only one parent is affected and the other is normal, then the pregnancy can be continued. If both the parents test positive for sickle cell, their child is highly likely to be born with the disease.
Counselling from a Hematologist and a Geneticist can help the couples to plan the current pregnancy and future pregnancies. Tests can be done on the fetus and based on the results, an informed and well thought decision can be taken to prevent the birth of a severe form of the disease.
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