Sickle Cell Disease – Prevention Found

PREVENTION OF SICKLE CELL DISEASE BY DTN FORMULA OF GENETIC COUBSELING AND TREATMENT BY HYDROXYUREA THERAPY

Disease Description

Sickle cell anemia is an inherited blood disorder characterized primarily by chronic anemia and periodic episodes of pain. The underlying problem involves hemoglobin, a component of red blood cells. Hemoglobin molecules in each red blood cell carry oxygen from the lungs to body organs and tissues and bring carbon dioxide back to the lungs.

In sickle cell anemia, the hemoglobin is defective. After hemoglobin molecules give up their oxygen, some may cluster together and form long, rod-like structures. These structures cause red blood cells to become stiff and assume a sickle shape.

Unlike normal red cells, which are usually smooth and donut-shaped, sickled red cells cannot squeeze through small blood vessels. Instead, they stack up and cause blockages that deprive organs and tissues of oxygen-carrying blood. This process produces periodic episodes of pain and ultimately can damage tissues and vital organs and lead to other serious medical problems. Normal red blood cells live about 120 days in the bloodstream, but sickled red cells die after about 10 to 20 days. Because they cannot be replaced fast enough, the blood is chronically short of red blood cells, a condition called anemia.

Inheritance

Sickle cell anemia is an autosomal recessive genetic disorder caused by a defect in the HBB gene, which codes for hemoglobin. The presence of two defective genes (SS) is needed for sickle cell anemia. If each parent carries one sickle hemoglobin gene (S) and one normal gene (A), each child has a 25% chance of inheriting two defective genes and having sickle cell anemia; a 25% chance of inheriting two normal genes and not having the disease; and a 50% chance of being an unaffected carrier like the parents.

Incidence

Sickle cell anemia affects millions throughout the world. It is particularly common among people whose ancestors come from sub-Saharan Africa; Spanish-speaking regions (South America, Cuba, Central America); Saudi Arabia; India; and Mediterranean countries such as Turkey, Greece, and Italy. In the Unites States, it affects around 72,000 people, most of whose ancestors come from Africa. The disease occurs in about 1 in every 500 African-American births and 1 in every 1000 to 1400 Hispanic-American births. About 2 million Americans, or 1 in 12 African Americans, carry the sickle cell trait.

Treatment

Although there is no cure for sickle cell anemia, doctors can do a great deal to help patients, and treatment is constantly being improved. Basic treatment of painful crises relies heavily on painkilling drugs and oral and intravenous fluids to reduce pain and prevent complications.

Blood Transfusions – Transfusions correct anemia by increasing the number of normal red blood cells in circulation. They can also be used to treat spleen enlargement in children before the condition becomes life-threatening. Regular transfusion therapy can help prevent recurring strokes in children at high risk.

Oral Antibiotics – Giving oral penicillin twice a day beginning at 2 months and continuing until the child is at least 5 years old can prevent pneumococcal infection and early death. Recently, however, several new penicillin-resistant strains of pneumonia bacteria have been reported. Since vaccines for these bacteria are ineffective in young children, studies are being planned to test new vaccines.

Hydroxyurea – The first effective drug treatment for adults with severe sickle cell anemia was reported in early 1995, when a study conducted by the National Heart, Lung, and Blood Institute showed that daily doses of the anticancer drug hydroxyurea reduced the frequency of painful crises and acute chest syndrome. Patients taking the drug needed fewer blood transfusions.

Regular health maintenance is critical for people with sickle cell anemia. Proper nutrition, good hygiene, bed rest, protection against infections, and avoidance of other stresses all are important in maintaining good health and preventing complications. Regular visits to a physician or clinic that provides comprehensive care are necessary to identify early changes in the patient’s health and ensure immediate treatment.

Today, with good health care, many people with sickle cell anemia are in reasonably good health much of the time and living productive lives. In fact, in the past 30 years, the life expectancy of people with sickle cell anemia has increased. Our scholars are always striving to find better solutions to this problem. Theresearch organisation – THRIVE by Dr Gynaranjan Padhy, has found a breakthrough solution which seems very promising and will solve lot of problems with respect to this disease.

Details of activity of THRIVE.

-The research organization was registered under society registration act in the year1995-1996 The research work is in progress for the last 16 years among the tribals.

The organization has recieved funds from Ministry of Social Justice & Empowerment,New-Delhi to implement the research project among the tribals of Sunabada of Nuapada dist. of Orissa.The project was successful.The tribals have accepted the DTN formula.

Indian Council of Medical research has approved the research project and it is in the process of placing funds.

After getting approval from ICMR,Director of Health services,Orissa has requested toGovt. to implement the research project in Western-Orissa.

Govt.has placed funds from NRHM to implement the research project among the tribals of Kalahandi.45 tribals(female) of Thuamul-Rampur have accepted DTN formula and they have been registered by THRIVE for genetic counseling..

86 nos. of patients from all over Orissa are under Hydroxyurea therapy.They are monitored monthly and are allowed to continue treatment.

All the Sickle cell disease patients from Orissa have been found by the research organization THRIVE high FOETAL HAEMOGLOBIN level.This is an achievement of THRIVE and the matter has been informed to ICMR,BBSR .

The C.D.M.O.,s of the affected districts have been informed about the fact that foetal haemoglobin level is high at Orissa.

For further details on this research work please contact-

Dr.Gyanaranjan Padhy M.D.(Medicine), President-THRIVE Director-Sickle cell disease and other Haemoglobnopathies reserdh project S.R.Medical college ,Hospital and reserch centre Jaring, P.O.-Nandole Dist.-Kalahandi,Orissa,INDIA