THALASSEMIA

SAIMA IBRAHIM
(feedback@pgeconomist.com)

July 25 - 31, 2011

Thalassemia is an inherited blood disorder passed down through families in which body makes an abnormal form of hemoglobin, protein in red blood cells that carry oxygen. It can be simply stated as the inability of the body to produce adequate amount of hemoglobin in the red blood cells.

The disorder results in excessive destruction of red blood cells, which leads to anemia. Children suffering from this blood disorder require a blood transfusion every month of their lives in addition to treatment for iron overload due to the excessive number of transfusions.

Causes, Incidence, And Risk Factors Hemoglobin is made of two proteins: Alpha globin and beta globin. Thalassemia occurs when there is a defect in a gene that helps control production of one of these proteins. There are two main types of thalassemia:

* Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated).

* Beta thalassemia occurs when similar gene defects affect production of the beta globin protein.

Both alpha and beta thalassemia include the following two forms:

* Thalassemia major
* Thalassemia minor

You must inherit the defective gene from both parents to develop thalassemia major. Thalassemia minor occurs if you receive the defective gene from only one parent. Persons with this form of the disorder are carriers of the disease and usually do not have symptoms. Beta thalassemia major is also called Cooley's anemia.

SYMPTOMS: The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or the late stages of pregnancy). Children born with thalessemia major (Cooley's anemia) are normal at birth, but develop severe anemia during the first year of life.

Other symptoms may include:

* Bone deformities in the face
* Fatigue
* Growth failure
* Shortness of breath
* Yellow skin (jaundice)

Persons with the minor form of alpha and beta thalassemia have small red blood cells, which are identified by looking at their red blood cells under a microscope.

SIGNS AND TESTS: A physical exam may reveal a swollen (enlarged) spleen. A test called mutational analysis can help detect alpha thalassemia that cannot be seen with hemoglobin electrophoresis. A blood sample will be taken and sent to a laboratory for examination.

* Red blood cells will appear small and abnormally shaped when looked at under a microscope.

* A complete blood count (CBC) reveals anemia.

* A test called hemoglobin electrophoresis shows the presence of an abnormal form of hemoglobin.

TREATMENT: Treatment for thalassemia major often involves regular blood transfusions and folate supplements. Bone marrow transplant may help treat the disease in some patients, especially children, as the survival is not possible without this type of therapy. Due to regular transfusion, there is an excess of iron that gets deposited in the body and if we don't remove this iron, it leads to deposition of this iron in different organs of the body and ultimately the child suffers with multiple problems at very young age. To remove this iron a drug known as desferol is used which the patient takes 5 days a week. Bone marrow transplant is the only hope for these children provided a matched donor is available. The cost is too much so most of the families living in Pakistan with limited resources with no medical package cannot afford this type of treatment so the ultimate answer is prevention.

CAUSES AND PREVENTION: Persons who receive significant numbers of blood transfusions need a treatment called chelation therapy to remove excess iron from the body. If you receive blood transfusions, you should not take iron supplements. Doing so can cause a high amount of iron to build up in the body, which can be harmful.

Whenever two thalassemia minors have a child there are 25 per cent chances of thalassemia major child, 50 per cent chances of thalassemia minor child and 25 per cent chances of a normal. Families where carriers are common should avoid inter-relative marriages as this is an inherited disorder and runs in the family.

RISK FACTORS & PROGNOSIS: Severe thalassemia can cause early death due to heart failure, usually between ages 20 and 30. Frequent blood transfusions with therapy to remove iron from the body helps improve the outcome. Less severe forms of thalassemia usually do not result in a shorter life span. Untreated thalassemia major leads to heart failure and liver problems, and makes a person more likely to develop infections. Blood transfusions can help control some symptoms, but may result in too much iron, which can damage the heart, liver, and endocrine system.

THALASSAEMIA SOCIETY OF PAKISTAN

Thalaessaemia Society of Pakistan was the first to carry out prenatal diagnosis for thalassemia in Pakistan. The society was established in 1994 and is an organization of volunteers from all walks of life, who have dedicated themselves to achieve the following goals: 1) Provide the best care and treatment for children with thalassemia, 2) Create awareness about thalassemia, and 3) Prevention through prenatal diagnosis.

The society has established a Thalassaemia Center in Paediatric Department at Sir Ganga Ram Hospital, Lahore where thalassemic children are given the following treatments free of cost:

1. The body of a thalassaemic cannot produce red blood cells, which means a blood transfusion is required every 3-4 weeks. The society collects, screens and transfuses blood to the patients coming to the Thalassaemia Center.

2. Due to repeated blood transfusions iron gets accumulated in the body. This excess iron must be removed from the body. The thalassemia center does this by using desferal injection given through a chelation pump. Each injection is administered in 8 hours and must be given 20 days a month. These patients are also given treatment for other thalassemia related complications such as splenectomy, infections, reactions, etc.

3. Thalassaemia is a disease, which not only affects a patient but also leaves a devastating psycho-social effect on the patient's family. The society also organizes a patient support group to help the families of patients pull through this traumatic experience.

TSP's Objective: To create awareness through genetic counseling, international conferences, seminars, workshops, brochures, leaflets, posters, lectures at school, college, and university levels and through media.

Prevention is better than cure which is why the society screens the carriers by simple blood test and also offers the facility of prenatal diagnosis to the pregnant mother to determine whether the baby is thalassemic or normal. Genetic counseling and prenatal screening may also be available to those with a family history of thalassemic tendency.

AFZAAL MEMORIAL THALASSEMIA FOUNDATION (AMTF)

The Afzaal Memorial Thalassemia Foundation Karachi, registered with the government, is also a joint endeavor of people from different spheres of life (doctors, patients, parents, social workers, journalists, entrepreneurs) converging on one platform with the ambition of aiding thalassemic patients and their families in their own special ways. They believe in providing the optimal standard of care to every thalassemic child. AMTF providing unconditional services to every thalassemic patient without any predefined prejudices against any caste or creed.

LOCATIONS (AFFILIATES AND BRANCHES)

THALASSAEMIA SOCIETY OF PAKISTAN

Hussaini Blood Bank
C/o Dr. Sarfaraz Jafri
43-Rehmat Manzil
Bhurgary Road
Karachi
Tel: 021-7210585
Bismillah Taqee Blood Diseases Centre, C/o Dr. Tahir Shamsi Chairman Organizing Committee Hill Park Hospital, S N C C 3/4-Block 3, Shaheed-e-Millat Road, Karachi,
Tel: 021-4388881

AFZAAL MEMORIAL THALASSEMIA FOUNDATION, KARACHI

ST-1C, Block-10, BNH 2 & 3 Floor, Ayesha Manzil, F.B. Area Karachi.
Ph: (9221) 6365641, 6366452
Fax: (9221) 6800951
Cell: 0321-3784538
Email: info@afzaalfoundation.org
www.afzaalfoundation.org
For Zakat Donation Muslim Commercial Bank, Tariq Road Branch, Kar.
Account Numbers:
Zakat: 0014010100-5400-4
Donation: 0014010100-5379-5
Meezan Bank Ltd., F.B. Area Branch, Karachi.
Account Numbers:
Zakat: 0133-0100140915
Donation: 0133-0100140895