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Hemoglobin
international journal for hemoglobin research
Volume 30, 2006 - Issue 3
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ORIGINAL ARTICLE

Inherited Hemoglobin Disorders in Guinea-Bissau, West Africa: A Population Study

, , , , &
Pages 355-364 | Received 18 Oct 2005, Accepted 28 Jan 2006, Published online: 07 Jul 2009
 

Abstract

The determination of the prevalence of inherited hemoglobin (Hb) disorders in endemic areas is important in order to develop programs for their control and management. The aim of this study is to determine the prevalence of inherited Hb diseases in Guinea-Bissau which is situated on the west coast of Africa, between Senegal and Guinea. One thousand and fifty-seven blood samples were collected and analyzed with high performance liquid chromatography (HPLC) for detection of β-thalassemia (thal) and Hb variants, and by gap polymerase chain reaction (gap-PCR) for the detection of deletions in the α-globin genes. We found 4.7% children were heterozygous for Hb S [β6(A3)Glu→Val, GAG →GTG], 0.2% were homozygous for Hb S, and 0.3% were heterozygous for Hb C [β6(A3)Glu→Lys, GAG →AAG]. One child had heterozygous β+-thal, 13.8% were heterozygous for the −α3.7 deletion, 1.5% were homozygous for the −α3.7 deletion, and 1.5% were heterozygous for the −α4.2 deletion. We recommend national screening programs to focus primarily on sickle cell disease, since β-thal is rare, and the observed α-thal deletions are of minor genetic importance.

Notes

2. WHO: A world map of the epidemiology of hemoglobin gene variants, expressed in terms of service indicators. Northern European Workshop of the managements of hemoglobinopathies. 2001.

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