Hematology Case 60

Patient came complaining from dizziness, easy fatigability, dyspnea on exercise, palpitation.

On examination: Palor, jaundice & hepatomegaly (6 cm BCM).

Patient informed to have thalassemia. She underwent splenectomy 3 years ago.

Last blood transfusion was 5 months ago. She is taking aspirin, deferasirox, folic acid & phenoxymethyl peneicillin.

Thalassemia Major

Suggested Redding:

Beta thalassaemia homozygosity indicates that an individual has two identical β thalassaemia genes and no normal β gene whereas compound heterozygosity indicates that there are two different thalassaemia genes. Compound heterozygosity includes β⁰ β⁺ thalassaemia but it is also possible to have two non - identical β⁰ genes or two non-identical β⁺ genes. If one of more of the thalassaemia genes is β⁺ there will be some haemoglobin A present, but if both genes are β⁰ the only haemoglobins present will be F and A₂.

β thalassaemia homozygosity and compound heterozygosity usually cause the clinical picture of β thalassaemia major. This condition is characterized by ineffective haemopoiesis, shortened red cell life - span, expanded intramedullary haemopoiesis and haemopoiesis at extramedullary sites such as the liver and spleen. Sufferers are, by defi nition, dependent on blood transfusions for survival. Less often the clinical picture is that of thalassaemia intermedia, a symptomatic condition of variable severity but, by definition, not requiring

transfusion for survival. Diagnosis of β thalassaemia homozygosity and compound heterozygosity is by demonstration that haemoglobin A is absent or greatly reduced with haemoglobin A₂ being increased and with haemoglobin F being the dominant haemoglobin. Suitable techniques are HPLC , haemoglobin electrophoresis at alkaline pH and isoelectric focusing.

Variant Haemoglobins: A Guide to Identification. Barbara J. Bain, 2010. P61-62.