Thalassemia

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Thalassemia by Mind Map: Thalassemia

1. Management

1.1. Regular Transfusion

1.2. Occasional transfusion

1.3. Iron chelation

1.4. Genetic counselling

1.5. Splenectomy

1.6. Stem cell transplantation

1.7. Financial support

1.8. Support groups

2. Etiology

2.1. Alpha

2.1.1. - chromosome 11 - Point mutation - Autosomal recessive - decrease syn of beta globin chains - 2 genes

2.2. Beta

2.2.1. - chromosome 16 - dec. syn. of alpha-globin chains - gene deletion > point mutation - 4 genes - autosomal recessive

3. Pathophysio

3.1. Beta

3.1.1. inc. ratio of alpha:beta (imbalance is the prob not the amt)

3.1.1.1. precipitation of alpha-globin

3.1.1.1.1. Membrane damage

3.2. Alpha

3.2.1. dec. ratio of alpha:beta

3.2.1.1. precipitation of beta-globin

4. Management

4.1. Beta

4.1.1. BT trait

4.1.2. Intermedia

4.1.2.1. w/ severe anemia

4.1.2.2. w/o severe anemia

4.1.3. Major

4.2. Alpha

4.2.1. HbH

4.2.1.1. No treatment.  Not severe enough for treatment

4.2.1.2. Get anaemic when they take oxidative drugs- avoid oxidative supplements

4.2.2. Hydrops Petalis

4.2.2.1. in-utero blood transfusions

5. Diagnosis

5.1. Prenatal Testing

5.1.1. Chorionic villus sampling

5.1.2. Amniocentesis

5.2. Testing after birth/later in life

5.2.1. Heel Prick (newborns)

5.2.2. CBC

5.2.2.1. less RBC, less Hb

5.2.3. Blood Smear

5.2.3.1. micro, hypo, nRBC, anisocytosis, poikilocytosis

5.2.4. Iron Studies

5.2.4.1. normal, high BC

5.2.5. Hb electrophoresis

5.2.5.1. HbF, HbA, HbS (slide 48)

5.3. Testing for thalassaemia trait

5.3.1. blood test

6. Complications (slides 38, 39)

6.1. Too much iron (blood transfusion)

6.1.1. side effects of chelation therapy- drug side effects

6.2. Growth impairment

6.2.1. high vol. of ineffective erythripoiesis

6.3. Bone abnormalities

6.4. Endocrinopathies

6.5. Splenomegaly & Hypersplenism

6.6. Hypercoagulability

6.6.1. post- splenectomy

6.7. Pulmonary hypertension

6.7.1. activation of coagulation sys, platelets, endothelial cells, inflammation