| ID | 149 |
|---|---|
| Name | THALASSEMIA |
| Cause | |
| Signs Symptoms | |
| Diagnosis | Diagnosis : A. The diagnosis of thalassemia major is made by the finding of profound hypochromic anemia associated with evidence of severe red cell dysplasia, erythroblastosis and the absence or gross reduction of the amount of hemoglobin A, raised level of hemoglobin F, and evidence that both parents have thalassemia minor. B. Thalassemia minor is often detected only when iron therapy for a mild hypochromic anemia fails. The demonstration of microcytes, increased resistance of red cells to osmotic lysis and a raised hemoglobin A fraction, together with evidence of the same abnormalities in other members of the family, establishes the diagnosis. |
| Investigations | |
| Management | |
| Introduction | In a human body, normal adult hemoglobin (HbA) accounts for approximately 98% of circulating hemoglobin. This ‘normal adult hemoglobin-HbA’ contains a tetramer- i.e two a chains & two b chains (0^2). In normal adult hemglobin about 1-2% hemoglobin contains a tetramer- a252 known as HbA2, and less than 1% contains a tetramer- a2Y2 known as HbF (or fetal hemoglobin- which is the major hemoglobin of fetal life). Thalassemia is an inherited disorder of hemoglobin synthesis, in which there is partial or complete failure to synthesis a specific type of globin chains (a or b) of adult hemoglobin; such as- incase of b-thalassemia, synthesis of b-globin chain is reduced or replaced by either 82 chain (i.e formation of HbA2) or by y2 chain (i.e formation of HbF). Incase of a-thalassemia, synthesis of cc-globin chain is reduced or replaced by either b2 chain (i.e formation of HbH containing b4 tetramer) or by y2 chain. |
| History | |
| Etiology | |
| Clinical Features | Clinical features:
Beta thalassemia major:
Anemia appears in infancy and gradually becomes severe with high level of HbF (a2y2) and absence or greatly reduced normal HbA (a^).
Hemolytic jaundice may appear. Weakness, fatigue and pallor may remain all the time. Growth is retarded, liver and spleen are enlarged. Bone marrow hyperplasia may produce head-bossing prominent malar eminences and giving a Mongoloid appearance. There may be cardiac dilatation and failure.
Beta thalassemia minor:
This is relatively common and suffer from only mild anemia with considerable levels of HbA, raised HbA2 (0^2) an |
| Preventions | |
| Treatment | Treatment:2 A. Treatment offl-thalassemia major: 1. Blood transfusion to maintain Hb level- i. Blood transfusion should be done on a regular schedule (at an appropriate interval) to maintain Hb >10gm%. ii. Folk acid supplement- 5mg daily. 2. Iron overload- iron therapy is strongly contraindicated, moreover an iron chelating agent should be given, such as- i. Desferrioxamine therapy- dosage & administration of desferrioxamine-see in the therapeutic section, ii. Ascorbic acid- 100-200mg/day enhances the effectiveness of desferrioxamine. 3. Splenomegaly- (causing mechanical problem & more hemolysis)-splenectomy performed as late as possible 4. For erythropoietic failure- i. Allogeneic bone marrow transplantation from HLA compatible sibling is the treatment of choice for b-thalassemia major. B. b-thalassemia minor & a-thalassemia trait: No treatment is necessary. C. Hemoglobin H disease: i. Folic acid supplement- 5mg daily. ii. Avoid medicinal iron & oxidative drugs, such as- sulphonamides |
| Complications | |
| Prognosis | |
| Types | Types of thalassemia: 1. b-thalassemia: i. b-thalassemia major (homozygotic thalassemia). ii. b-thalassemia minor (heterozygotic thalassemia). 2. a-thalassemia: i. a-thalassemia trait. ii. Hemoglobin H disease (HbH disease). b-thalassemia is the most common thalassemia prevailed in the community. b-thalassemia when heterozygotic- thalassemia minor, a condition in which anemia is usually mild and little or no clinical disability. b-thalassemia when homozygotic- thalassemia major, in which anemia is severe, and without transfusion the hematocrit may fall to less than 10%. Hemoglobin A is absent or very little. Most of the hemoglobin is HbF, and a variable amount of hemoglobin A2 is seen. |
| Classification | |
| Observation | |
| Pathology |
© Pakistan Drug Directory. All Rights Reserved.
Designed By: Pakistan Drug Directory Team