NDLI: Haptoglobin, alpha‐thalassaemia and glucose‐6‐phosphate dehydrogenase polymorphisms and risk of abnormal transcranial Doppler among patients with sickle cell anaemia in Tanzania

Content Provider	PubMed Central
Author	Cox, Sharon E. Makani, Julie Soka, Deogratias L'esperence, Veline S. Edward, Kija Paula, Dominguezâ salas Newton, Charles R. J. Birch, Anthony A. Prentice, Andrew M. Kirkham, Fenella J.
Abstract	Transcranial Doppler ultrasonography measures cerebral blood flow velocity (CBF v) of basal intracranial vessels and is used clinically to detect stroke risk in children with sickle cell anaemia (SCA). Co‐inheritance in SCA of alpha‐thalassaemia and glucose‐6‐phosphate dehydrogenase ( G6PD ) polymorphisms is reported to associate with high CBF v and/or risk of stroke. The effect of a common functional polymorphism of haptoglobin ( HP ) is unknown. We investigated the effect of co‐inheritance of these polymorphisms on CBF v in 601 stroke‐free Tanzanian SCA patients aged <24 years. Homozygosity for alpha‐thalassaemia 3·7 deletion was significantly associated with reduced mean CBF v compared to wild‐type (β‐coefficient −16·1 cm/s, P = 0·002) adjusted for age and survey year. Inheritance of 1 or 2 alpha‐thalassaemia deletions was associated with decreased risk of abnormally high CBFv, compared to published data from Kenyan healthy control children (Relative risk ratio [RRR] = 0·53 [95% confidence interval (CI):0·35–0·8] & RRR = 0·43 [95% CI:0·23–0·78]), and reduced risk of abnormally low CBFv for 1 deletion only (RRR = 0·38 [95% CI:0·17–0·83]). No effects were observed for G6PD or HP polymorphisms. This is the first report of the effects of co‐inheritance of common polymorphisms, including the HP polymorphism, on CBF v in SCA patients resident in Africa and confirms the importance of alpha‐thalassaemia in reducing risk of abnormal CBFv.
Related Links	http://dx.doi.org/10.1111/bjh.12791
Ending Page	706
Page Count	8
Starting Page	699
File Format	PDF
ISSN	00071048
e-ISSN	13652141
Journal	British Journal of Haematology
Issue Number	5
Volume Number	165
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2014-06-01
Access Restriction	Open
Rights Holder	Wiley-Blackwell
Subject Keyword	Hematology Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Hematology

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