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Sickle cell distribution

 

Sickle cell distribution

Sickle Cell Disease in India

 

 The mutation, located on short arm of chromosome 11, results in the formation of the abnormal Hemoglobin (Hemoglobin S). It is a point mutation resulting in a single change in the nucleotide sequence of beta globin from an adenine to thymine, altering the amino acid sequence from glutamine to valine. This chemical change destabilizes the deoxygenated Hemoglobin S, leading to physical deformation of the red blood cell into a sickle shape. The deformed cell promotes hemolysis and induces vaso-occlusion of small vessels, which is the basis of the pathology of the disease.

 

 Anthony Allison initially noted that SCD was common in coastal and lake regions of Kenya, but rarely found in the highlands. Malaria is common in the lowlands and is rarely noted in the highlands. Carriers of the sickle cell gene are protected from invasion by the malaria parasite, giving them a selective advantage for survival. This is believed to be the reason that the gene has been conserved and is highly prevalent in areas in which malaria is endemic. Unfortunately, homozygous children of carriers pay a heavy price.

 

 Clinical Features

 

 SCD is characterized in infancy and childhood by an increased susceptibility to infections.  In particular, pneumococcal pneumonia can have fulminant course rapidly evolving from fever to death, within 12 hours. Other common infections include meningitis and septicemia. Patients can present with recurrent fever, joint pains, abdominal pain, and vaso-occulsive crises. Chronic presenting symptoms can include fatigue and dyspnea. Physical examination generally reveals pallor, splenomegaly, and less frequently hepatomegaly.

 

 Treatment

 

 Dramatic improvement in survival has been accomplished in the past 30 years with relatively simple, inexpensive, and widely available interventions. It starts from screening at birth for early diagnosis, which is absolutely essential to prevent the high mortality in the first year. Life expectancy can be markedly improved by adhering to the following recommendations:

 

 

 

  • Penicillin prophylaxis from birth to age 5 ;
  • Adherence to recommended immunization schedules;
  • Folic acid supplements;
  • Maintaining a good state of hydration;
  • Prompt detection and treatment of infections;
  • Selective use of transfusions, particularly before anesthesia and operations; and
  • Monitoring for complications.

 

  Conclusion

 

SCD is more common in India than most of us realize. It has been a neglected disease, as it was felt to be only a disease of tribal populations, but is much more widely prevalent especially in the central belt of the country. Because SCD is amenable to simple and widely available treatments, a planned and organized approach to detection and management can greatly improve the longevity and quality of life for these patients. Despite affecting 20 million people in India, SCD has only recently begun to receive some recognition. There are currently at least centers focused on SCD in the country. I hope this information will encourage AAPI members to join the effort to combat SCD in India.

 

Arya Patel and Mohamed M Haq M.D

 

Sickle Cell Disease Brochure

 

 What is Sickle Cell Disease?

 

Sickle Cell Disease (SCD) is an inherited disorder affecting red blood cells. Normal red blood cells are round. People with sickle cell disease have sickle or crescent shaped red blood cells. The sickle shaped red blood cells have difficulty passing through small blood vessels.

 

How do people get Sickle Cell Disease?

 

A person with SCD is born with it. It is not spread like a cold and cannot be caught from another person.

 

It is an inherited condition from your parents. If a child inherits abnormal genes from both parents, they will develop a severe form of sickle cell disease.

 

If a child only inherits one abnormal gene from a parent and a healthy gene from the other parent, they do not have any symptoms. Such a person has the sickle cell trait and does not have the disease. However, they are still carriers of the abnormal gene. If both parents have the sickle cell trait, they have a one in four chance with each pregnancy of having a child with sickle cell disease. 

 

It is more common in tribal people, but can be found in all communities.

 

What are the most common symptoms of sickle cell disease?

 

  • Pain. Multiple episodes of pain in the arms, legs, chest and abdomen.
  • Infection. People with SCD, especially infants and children, are more likely to have harmful infections. There is a high risk of death from infections in infancy and early childhood.
  • Stroke.  It occurs at a young age in people with SCD.
  • The use of tobacco or alcohol increase the risk of serious complications.

 

How do you know if you have sickle cell disease or sickle cell trait?

 

Only a special blood test can determine if you have sickle cell disease or the trait.

 

How do you treat sickle cell disease?

 

People with SCD can still have a normal life if they adhere to the treatment guidelines described below.

 

  • Early detection by screening at birth offers the best chance for survival.
  • Penicillin given prophylactically every day from birth until 5 years of age greatly reduces the chance of death from infections.
  • Folic acid 1 mg taken every day for life.
  • Vaccines.
  • Drinking 8 to 10 glasses of water every day.
  • Seek medical help for infections immediately.
  • Carry a sickle cell disease identification so doctors know to treat you appropriately.

 

Can you prevent sickle cell disease?

 

Yes, through premarital blood testing. If you avoid marriage between two carriers or a carrier and a sickle cell patient, there will be no risk of having a child with sickle cell disease. 

 

 One of the tenets of PIMS mission is that 'it shall endeavor to set new standards of excellence by constantly raising its own levels of performance'. Continuing Medical Education, evaluation and professional development at PIMS is considered to be an indispensable tool for enhancing its knowledge and preparedness. Right from its inception, PIMS had initiated a vigorous CME program comprising of workshops, seminars and conferences, often involving the participation of overseas Faculty. This exercise is a religiously adhered to weekly practice at PIMS. Consider some of the important programs conducted at PIMS :