Case Reports

Discrepant clinical haematology features in siblings of Pakistani origin with β-thalassaemia

Andrea Prinsloo, Johan Potgieter, Roger Pool, Johannes Opperman, Vanessa Moodley, Shirley Henderson, John Old


An eight year old boy was referred with anaemia and splenomegaly. Physical examination revealed short stature, thalassaemic facies, pallor and splenomegaly.

The FBC showed a hypochromic, microcytic anaemia. Serum ferritin was normal. Haemoglobin electrophoresis revealed 56% HbF, 2.3% HbA2 and 41.7% HbA.

Using polymerase chain reaction (PCR) and deoxyribonucleic acid (DNA) sequencing, two different β-thalassaemia mutations were identified in the parents. Both parents thus had a β-thalassaemia trait whilst both children were compound heterozygotes.

The propositus had become transfusion dependent while his sister had managed to maintain her Hb above 8.5 g/dl. The family was studied for α+-thalassaemia and hereditary persistence of foetal haemoglobin (HPFH) deletions as well. This showed that the daughter had inherited a single α gene deletion from her mother which the son had not. Studies for HPFH mutations revealed that all four family members had one γ point mutation.

The presence of HPFH in this family cannot be considered to have any effect on the thalassaemia major phenotype as neither of these β mutations are known to be associated with any HbF induction. It is also possible that the daughter inherited a non-deletion HPFH gene which her brother did not.

Authors' affiliations

Andrea Prinsloo, NHLS and UP

Johan Potgieter, NHLS and UP

Roger Pool, NHLS and UP

Johannes Opperman, UP and Gauteng Deparment of Health

Vanessa Moodley, NHLS and UP

Shirley Henderson, Churchill Hospital

John Old, Churchill Hospital

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haemoglobinopathies; β-thalassaemia; globin genes

Cite this article

South African Journal of Child Health 2009;3(1):24.

Article History

Date submitted: 2008-05-06
Date published: 2009-05-27

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