Beta thalassaemia major is one of the major health problems of Pakistan.
There are approximately more than 85000 beta thalassaemia major in Pakistan.
Our 5 - 7% population is carrier of thalassaemia (approximately 10 millions).
Almost 5000 new children are born with thalassaemia major every year.
: Normally the fetus inherits one alpha & one beta gene from the mother and one alpha & beta gene from the father. These two alpha and two beta genes produce two alpha and two beta chains which combines with ferrous iron to form normal hemoglobin in the red cells throughout the life. The function of hemoglobin is to carry oxygen from the lungs to the tissues. The RBCs are formed by the bone marrow and their normal life span is 120 days.
Thalassaemia is an inherited blood disorder characterized by reduced or absent synthesis of one or both alpha or beta chains leading to abnormal formation of hemoglobin (low hemoglobinn).
1. Alpha thalassaemia; there is reduced or absent synthesis of alpha chains.Alpha thalassaemia is not common in Pakistan.
2. Beta thalassaemia; there is reduced or absent synthesis of one or both beta chains. Beta thalassaemia is further classified into three types;
- Thalassaemia minor or carrier
- Thalassaemiaintermedia
- Thalassaemia major.
It is not a disease.These individuals inheritone normal and one defective / absent beta gene from their parents. The hemoglobin formed with this combination remains slightly on the lower side i.e. between 9- 11 gram/decilitrecompared to normal adult hemoglobin i.e. 12-16 grams per decilitre. These individuals pass their normal life. They do not require any treatment or blood transfusionthroughout their life.However marriage between two thalassaemia minorsshould be avoided.
It is a stage between thalassaemia minor and thalassaemia major. These patients require blood transfusion off & on.
Definition: It is an inherited disorder of abnormal haemoglobin formation in which the patient requires life time transfusion of red cells.
When two thalassaemia minors marry each other, then there are 25% chance that the fetus inherits both defectivebeta genes from his/her parent thus there will be no formation of beta chains, the alpha chains will replace the two beta chains (hemoglobin will have four alpha chains instead of two alpha chains). This type of defective hemoglobin with four alpha chains will precipitatesin the red cells, thus these red cells will become rigid and will be broken down in the tight splenic vessels. (RBCs are broken down within few days instead of normal 120 days). Therefore these patients require regular blood transfusion after every 10 to 20 days till death.
It is a genetic disorder i.e. transferred only fromthe parents. It is not be transmitted by hugging, eating together or shaking hands.
After birth, at 4-6 months of age the child becomes pale, abdomen is distended, cries excessively, feeds poorly, growth is retarded, bossing of frontal bones, etc. The disease is diagnosed by hemoglobin electrophoresis test.
In later life; growth is markedly reduced, skin becomes blackish in colour, and abdomen is grossly distended, Mongolian face, delayed puberty, dental problems, deafness, etc.
- Blood CBC; low haemoglobin, Normal WBC and Platelets. Numerous target cells, fragmented cells, etc.
- Hemoglobin Electrophoresis is the definite test to diagnose thalassaemia minor and major.
- If husband and wife are both thalassaemia minors and if the wife conceives then between 10 -12 weeks of gestation the wife can have a test done called Chorionic Villus Sampling which can reveal that the fetus is thalassaemia major / thalassaemia minor or normal. If the fetus is thalassaemic major then couple can decide to terminate the pregnancy.
Complications of the disease: abnormal dentition, deafness,complication of iron overload with iron deposition in various organs. Deposition of iron in pancreas can cause diabetes mellitus;in liver can cause hepatitis, in heart can cause heart failure, growth retardation if deposited in epiphyseal lining of the long bones, etc. psychological problems, complications of blood transfusion, etc.
Complications of blood transfusion: Various types of allergic reactions, fever, transmission of HIV virus / hepatitis viruses like B & C / malaria / syphilis,etc., with transfusion of one pack red cells there is deposition of 200 mgiron in the patient body which is the main cause of iron overload, sensitization against donor blood group antigens, etc.
- Supportive Treatment: The estimated supportive treatment for one patient costs Rs 270,000/ year.
- Blood transfusion: group specific, compatible, leucodepleted (WBC s free blood), negative for hepatitis B & C, HIV 1&2, Syphilis and Malaria
- To remove excess iron, injection Desferol 20 – 60 mg/kg subcutaneously in 6 - 12 hours given 5 to 7 days a week. OR tab Kelfer 75 mg/kg/day, OR Tab Asurna 20- 40 mg/kg/day 5 to 7 days a week.
- Vaccination against hepatitis B.
- Spleectomy; if symptoms of hyperspleenism develop (splenomegaly, low platelet and low total leucocyte count).
- Treatment of hormonal deficiencies, infections, etc.
- Dental Care
Bone marrow transplant is the definite treatment. Matching of the bone marrow is a major issue with the patient brother or sister. The cost is approximately three million rupees. It is successfully done in Pakistan with good results. It is usually performed between 5 – 10 years of age. After successful transplantation the patient has to take inj. Desferol for few years to remove the excess iron deposited in the body.
Before marriage, the couple should have a laboratory test done called hemoglobin electrophoresis and if the report indicates that both are thalassaemia minor, then the marriage should be avoided.
If one partner is a carrier and the other is normal than they can marry each other, they will have normal or thalassaemia minor children.
- Prevention is better than cure
- Avoid marriage between two Thalassaemia Minors
- Donate blood regularly for thalassaemia patients (total blood requirement for these patients in Pakistan is more than 1.5 million units per year).
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