Hereditary Elliptocytosis in Africa

Dhermy, Didier; Carnevale, Paolo; Blot, I; Zohoun, I.

doi:10.1016/s0140-6736(89)91247-6

Cited by 3 publications

(2 citation statements)

References 2 publications

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“…Ethnicity: higher prevalence in countries in the malaria-endemic regions: probable protection against malarial infection [45]. 1 in 100 births in some African countries [46] and 1: 5000 births among Caucasians. Also found in the populations in the Mediterranean countries, the Middle East, Japan [47], the Indian subcontinent, and the Far East.…”

Section: Hereditary Elliptocytosis and Heredita Ry Pyro Poik Ilocytosismentioning

confidence: 99%

“…The incidence of HE is about 2% in different regions of Africa while thalassemia and South East Asian ovalocytosis (SAO) (incidence of 1–1.5%) are prevalent in South East Asia and the Melanesia. SAO (caused by a deletion of nine amino acids in Band 3) can be a hemolytic condition during early childhood but hematologically normal when reaching adulthood.…”

Section: Coexistence Of Membranopathy and Other Red Cell Disordersmentioning

confidence: 99%

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ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders

King

Garçon²,

Hoyer

et al. 2015

Int J Lab Hematology

144

141

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Specialist tests provide additional evidence in supporting the diagnosis and that will facilitate the management of the patient. In the case of a patient's clinical phenotype being more severe than the affected members within the immediate family, molecular testing of all family members is useful for confirming the diagnosis and allows an insight into the molecular basis of the abnormality such as a recessive mode of inheritance or a de novo mutation.

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Section: Hereditary Elliptocytosis and Heredita Ry Pyro Poik Ilocytosismentioning

confidence: 99%

Section: Coexistence Of Membranopathy and Other Red Cell Disordersmentioning

confidence: 99%

ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders

King

Garçon²,

Hoyer

et al. 2015

Int J Lab Hematology

144

141

View full text Add to dashboard Cite

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Erythrocytes carrying mutations in spectrin and protein 4.1 show differing sensitivities to invasion byPlasmodium falciparum

et al. 1995

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The role of the erythrocyte skeleton in the invasion process of Plasmodium falciparum was evaluated using genetically variant erythrocytes containing well-defined molecular defects in alpha spectrin (alpha Sp) or protein 4.1 from eight unrelated families. Invasion into red cells from subjects of three black families with hereditary pyropoikilocytosis (HPP) due to inheritance of alpha I/74 mutant spectrin was significantly reduced in cells both from the patients and from the relatives of these who carried asymptomatic hereditary elliptocytosis (HE). Likewise, reduced invasion was also seen in red cells from two families with HE in which the alpha I/65 variant spectrin was present. Resistance to invasion was not absolute in any sample and varied between 38% and 71% of that seen in normal cells. The decreased invasion correlated with the percentage of spectrin dimers present within the membrane of variant cells. In contrast, invasion into elliptocytes from three families that had a partial deficiency in protein 4.1 (HE/4.1+) but a normal percentage of spectrin dimers was either unchanged or increased. The precise mechanism and molecular basis behind the reduced invasion into HPP and HE red cells bearing Sp alpha I domain variants remains to be elucidated but might relate to alterations in merozoite/red cell-receptor interactions and/or merozoite endocytosis. The occurrence of elliptocytosis with spectrin defects (in particular, Sp alpha I/65 and Sp alpha I/46 variants in West Africa) suggests that these mutations of the alpha Sp gene could be related to some protection against malaria.

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