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What is Thalassemia

Everything you need to know about THALASSAEMIA . What is THALASSAEMIA, how to prevent THALASSAEMIA causes and treatment

GENERAL QUESTIONS

What is Thalassemia?

Beta Thalassemia is one of the most commonly inherited disorders in the country, with a prevalence rate of 6 % in the Pakistani population. There are more than 50,000 Thalassemia patients registered with associations and treatment centers all over the country.

Thalassemia associations in Pakistan have joined hands and formed a Federation by the name of Thalassemia Federation of Pakistan

Treatment of Thalassemia

Specific treatment for Beta Thalassaemia major will be determined by doctor based on:

Age, overall health, and medical history

Extent of the disease

tolerance for specific medications, procedures, or therapies

Expectations for the course of the disease

Patient’s opinion or preference

Treatment may include

Regular blood transfusions

Medications (to decrease the amount of iron in the body called iron chelation therapy)

Splenectomy (surgical removal of the spleen, if necessary)

Daily doses of folic acid

Possible surgical removal of the gallbladder

Regular checks of heart and liver function

Genetic tests

Bone Marrow Transplant

Cure of β-thalassaemia can only currently be achieved by haemopoietic stem cell transplantation (HSCT), which includes bone marrow transplantation (BMT). This has been shown to be successful in the majority of cases, provided that a fully matched (HLA compatible) sibling (brother or sister) can be identified, and the patient is in a very good condition clinically, i.e. he or she has been receiving appropriate clinical management from the early years. However, only a relatively small percentage of patients (about 20%) will have a fully matched family donor, and considering that this procedure is still an expensive one, BMT cannot be the solution to the total cure of this disease for the majority of patients. BMT for β-thalassaemia is available in Pakistan.

Carrier Status

Laboratory tests for thalassaemia include a routine blood test known as a Complete Blood Count (CBC), which includes measuring the level of haemoglobin and other parameters related to the number and volume of red blood cells, known as Mean corpuscular Volume (MCV) and Mean Corpuscular Haemoglobin (MCH). MCV levels may be lower in children and vary according to age. Red blood cells are also examined under a microscope in order to examine their size and shape. The red blood cells of a thalassaemia carrier will be a paler shade of red and be various shapes (poikitocytosis), compared to normal red blood cells which are a darker red and round and concave in shape.

Tests to determine the presence of the β -trait and confirm that the individual is a carrier of β -thalassaemia include a laboratory process known as haemoglobin electrophoresis, which enables quantitative measurement of haemoglobin. Other haemoglobins normally present in adult red blood cells such as foetal haemoglobin (HbF) may also be measured by electrophoresis. In most cases, the above tests are sufficient to determine whether an individual is a carrier or not.

In some circumstances, genetic or DNA tests need to be carried out in order to confirm whether one is a carrier. Such genetic tests are beginning to be more and more widely used to test for the thalassaemia trait.

Screening should be considered when a relative is known to be a carrier or a thalassaemia patient. Moreover, people who are anemic and do not respond to iron treatment should also have their carrier status donetum orci ultrices non.

Prenatal Diagnosis

The birth of Beta Thalassaemia major child can be prevented. Couples who are aware that they are carriers of β-thalassaemia, may undergo prenatal diagnosis (Amniocentesis, Cordocentesis and Chorionic Villus Sampling (CVS) to prevent the birth of an affected child. The prenatal diagnosis methiod used in Pakistan is Chorionic Villus Sampling (CVS):

Chorionic villus sampling (CVS) is a test done during early pregnancy to see if the child is affected or not.  Chorionic Villi are tiny finger-shaped growths found in the placenta.  The genetic material in chorionic villus cells is the same as that in the baby’s cells. Using ultrasound as a guide, the specialist obstetrician removes a small sample of cells from the chorionic villi. The cells are removed either with a thin needle inserted through the mother’s abdomen (transabdominal) or a thin catheter inserted through the vagina (transcervical). The cells are then analysed and a diagnosis made.

Chorionic villus sampling can be done earlier in pregnancy (at 10 to 12 weeks). CVS allows the parents to know the health of their baby and make an earlier decision whether to continue or end the pregnancy. Results of CVS usually take less than a week. Risk of miscarriage in CVS is about 0.5 – 1%.

Pakistan is among the highest thalassemia burden countries in the world. The commonly quoted figure for the country is 100,000 transfusion-dependent thalassemia patients. In the absence of a coherent national policy and strategic plan, the number of thalassemics in the country is believed to be increasing, but the exact burden of the disease is unknown. As a result, despite being a preventable blood disorder, thalassemia in Pakistan continues to increase in number and causes misery to the patients and their families. In addition, it also creates a heavy burden on the already resource-constrained and stretched national health-care system, particularly the blood transfusion system. A significant proportion of the blood transfusions carried out in Pakistan are used for thalassemia patients, but the exact figures also remain unknown. There is a need to better address the thalassemia situation and concomitant burden on the national health care and blood transfusion systems in Pakistan. As no baseline survey has ever been conducted in Pakistan, there are no credible statistics about any aspect of thalassemia in the country. Basic epidemiological and clinical data about the Pakistan thalassemia population do not exist. Information is also not available about treatment facilities and their access to the patients. Without this basic information, it is difficult to convince the policy-makers about allocating resources to control and prevent the thalassemia.