Combination of spherocytosis and a variant of beta thalassaemia ('isolated raised Hb A2').

Author:

Cunningham T A,Vella F

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference25 articles.

1. ence of the genes for spherocytosis and the beta thalassaemia variant in our patient in any way interfered with the expression or clinical manifestation of either. A similar lack of interaction can be inferred from study of the published reports on patients with the combination of hereditary elliptocytosis and classical beta thalassaemia;Brumpt, Delabarre, and De Traverse, 1960; De Vries, De Jong, and Frenkel,1959

2. Absence of the haematological stigmata of a postulated thalassaemia gene in the presence of spherocytosis was noted by Cohen;et al; in their patient. This they attributed to a suppression or masking of the thalassaemia effect, by the spherocytosis gene. However, the thalassaemia gene they postulated did not produce an increase in haemoglobin A2 level. In our patient this explanation is not tenable since his brother also had a raised haemoglobin A2 level in the absence of any noticeable morphological abnormalities. The thalassaemia gene in our family, therefore, is of the kind that is expressed as an isolated raised haemoglobin A2 level,1959

3. No explanation can be offered for the finding of a prolonged clotting time and incomplete clot retraction in our patient. There was no history of a haemorrhagic diathesis in the patient or his family. The situation is different, therefore, from that reported by Chatterjea (1956) in a Hindu family in which both spherocytosis and 'pseudo haemophilia' were present and occurred together in one member

4. The combination of hereditary elliptocytosis with heterozygous beta thalassaemia;Aksoy, M.;Acta haemat. (Basel),1963

5. Thalassemia: A Survey of Some Aspects;Bannerman, R.M.,1961

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