Discrepant clinical and haematological features in siblings of Pakistani origin with β-thalassaemia
dc.contributor.author | Prinsloo, Andrea | |
dc.contributor.author | Potgieter, Johan J.C. | |
dc.contributor.author | Moodley, Vanessa | |
dc.contributor.author | Pool, Roger | |
dc.contributor.author | Opperman, Johannes | |
dc.contributor.author | Henderson, Shirley | |
dc.contributor.author | Old, John | |
dc.date.accessioned | 2009-07-16T08:05:47Z | |
dc.date.available | 2009-07-16T08:05:47Z | |
dc.date.issued | 2009-05 | |
dc.description.abstract | An 8-year-old boy was referred with anaemia and splenomegaly. Physical examination revealed short stature, thalassaemic facies, pallor and splenomegaly. The full blood count showed a hypochromic, microcytic anaemia. The serum ferritin level was normal. Haemoglobin electrophoresis revealed 56% HbF, 2.3% HbA2 and 41.7% HbA. The boy's younger sister was subsequently found to have a mild hypochromic, microcytic anaemia with a marked increase in HbF level. Using the polymerase chain reaction (PCR) and deoxyribonucleic acid (DNA) sequencing, two different β-thalassaemia mutations were identified in the parents. Both parents therefore had a β-thalassaemia trait, while 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 β+-thalassaemia and hereditary persistence of fetal haemoglobin (HPFH) deletions. This showed that the daughter had inherited a single β-gene deletion from her mother while the son had not. Studies for HPFH mutations revealed that all four family members had one β-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-deletional HPFH gene which her brother did not. | en |
dc.identifier.citation | Prinsloo, A, Potgieter, JJC, Moodley, V, Pool, R, Opperman, J, Henderson, S & Old, J 2009, 'Discrepant clinical and haematological features in siblings of Pakistani origin with β-thalassaemia', South African Journal of Child Health, vol. 3, no. 1, pp. 24-26. [http://www.sajch.org.za/index.php/SAJCH] | en |
dc.identifier.issn | 1994-3032 | |
dc.identifier.uri | http://hdl.handle.net/2263/10786 | |
dc.language.iso | en | en |
dc.publisher | Health and Medical Publishing Group | en |
dc.rights | Health and Medical Publishing Group | en |
dc.subject | Anaemia | en |
dc.subject | Splenomegaly | en |
dc.subject | β-thalassaemia | en |
dc.subject | Siblings of Pakistani | en |
dc.subject.lcsh | Anemia in children -- Pakistan | en |
dc.subject.lcsh | Thalassemia in children -- Pakistan | en |
dc.subject.lcsh | Brothers and sisters -- Pakistan | en |
dc.title | Discrepant clinical and haematological features in siblings of Pakistani origin with β-thalassaemia | en |
dc.type | Article | en |