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Year : 2016  |  Volume : 4  |  Issue : 1  |  Page : 50-57

Sickle cell disease genetic counseling and testing: A review

Department of Haematology and Blood Transfusion, Nnamdi Azikiwe University Teaching Hospital, Nnewi, Anambra State, Nigeria

Correspondence Address:
John C Aneke
Department of Haematology and Blood Transfusion, Nnamdi Azikiwe University Teaching Hospital, PMB 5025, Nnewi, Anambra State
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2321-4848.183342

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The huge burden of sickle cell disease (SCD) coupled with a correspondingly high morbidity and mortality, particularly in Sub-Saharan Africa, has made it really imperative to invest more in ways of reducing the prevalence of this disorder. The SCD genetic counseling and testing have been shown to educate individuals on SCD and also offer those at risk the opportunity of making informed decisions on marriage and pregnancy. We reviewed available data on genetic counseling and testing for SCD, using the PubMed, PubMed Central, Google Scholar, and African Index Medicus search engines, through a combination of words and phrases relevant to the subject and attempted to highlight how this can be better applied in a resource-poor setting such as Nigeria, with a huge disease burden. More advanced countries with significant population of patients with SCD and other hemoglobinopathies have evolved functional genetic and counseling protocols, with remarkable impacts on disease epidemiology; this feat however does not appear to be replicated in a number of African countries. This paper reviewed genetic counseling and testing for SCD in countries with high disease burden, with particular emphasis on Nigeria, which has a disease prevalence and carrier rate of 2-3% and 20-30%, respectively.

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