Southeast Asian ovalocytosis in an African-American family [letter]

Ravindranath, Yaddanapudi; Goyette, Gerard; Johnson, Robert M.

doi:10.1182/blood.v84.8.2823.bloodjournal8482823

Cited by 10 publications

(9 citation statements)

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“…The distribution of this deletion coincides with malaria endemic areas and has been well documented in Southeast Asia, and particularly in Papua New Guinea, the only other area of the world with transmission of malaria to equal that seen in Africa (Mgone et al ., 1996;Kimura et al ., 1998Kimura et al ., , 2003Patel et al ., 2004). Among Africans indigenes, SAO was first observed by Ravindranath et al . (1994) in a South African-American family with sub-Saharan ancestors.…”

Section: Resultsmentioning

confidence: 99%

“…It was shown that the heterozygote genotypes are resistant against cerebral malaria, while the homozygote status is probably lethal during fetal development (Kimura et al ., 1998, 2003). Distribution of the 27‐bp deletion allele expands from Southeast Asia and Melanesia to Mauritius, South Africa, Madagascar and Mexico (Tanner et al ., 1991; Ravindranath et al ., 1994; Coetzer et al ., 1996; Mgone et al ., 1996; Kimura et al ., 1998; Rabe et al ., 2002; Kimura et al ., 2003; Patel et al ., 2004; Ramos‐Kuri et al ., 2005), but no surveys for the prevalence of the 27‐bp deletion have been done among populations of Central and West Africa. The present study focused on the analysis of the distribution of the ABO and Rh blood groups, and HbS alleles in a sample of individuals belonging to five ethnic groups from Northern Côte d’Ivoire.…”

Section: Introductionmentioning

confidence: 99%

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Erythrocyte polymorphisms in five ethnic groups of Northern Côte d’Ivoire

Santovito

Burgarello²,

Cervella

et al. 2009

Int J Immunogenetics

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Distribution of some erythrocyte polymorphisms was investigated in five Northern Côte d'Ivoire ethnic groups. For the ABO blood group system, the frequencies of alleles p, q and r were 0.119, 0.150 and 0.731, respectively, while the frequencies of alleles D and d of the Rh blood group system were 0.726 and 0.274, respectively. These values are consistent with published data, while the high incidence of HbAS genotype could result from microevolutionay trends acting on this relatively small population. No 27-bp Southeast Asian ovalocytosis gene deletion was found in the sample.

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Erythrocyte polymorphisms in five ethnic groups of Northern Côte d’Ivoire

Santovito

Burgarello²,

Cervella

et al. 2009

Int J Immunogenetics

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“…àCDAII can be confirmed by molecular analysis of SEC23B (encoding COPII coat component) (Schwarz et al, 2009). §SAO red cells give a virtually flat deformability profile (Ravindranath et al, 1994), indicating that these cells are rigid.…”

Section: Recommendationsmentioning

confidence: 98%

“… §SAO red cells give a virtually flat deformability profile (Ravindranath et al , 1994), indicating that these cells are rigid. …”

Section: Laboratory Investigationmentioning

confidence: 99%

Guidelines for the diagnosis and management of hereditary spherocytosis – 2011 update

Bolton‐Maggs¹,

Langer²,

Iolascon³

et al. 2011

Br J Haematol

301

304

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SummaryGuidelines on hereditary spherocytosis (HS) published in 2004 (Bolton-Maggs et al, 2004) are here replaced to reflect changes in current opinion on the surgical management, (particularly the indications for concomitant splenectomy with cholecystectomy in children with mild HS, and concomitant cholecystectomy with splenectomy in those with asymptomatic gallstones).Further potential long term hazards of splenectomy are now recognised. Advances have been made in our understanding of the biochemistry of the red cell membrane which underpins the choice of tests. Biochemical assays of membranes proteins and genetic analysis may be indicated (rarely) to diagnose atypical cases. The diagnostic value of the eosin-5-maleimide (EMA) binding test has been validated in a number of studies with understanding of its limitations.Keywords: spherocytosis, hereditary, splenectomy, child, erythrocyte membrane.The guideline group was selected to represent UK medical experts and patient representatives but sought the expertise of two overseas specialists with a particular interest in hereditary spherocytosis (HS).The writing group searched PubMed from 2003 to July 2010 for relevant literature including meta-analyses (none found), reviews and original papers in any language, using the following key words and combinations of them: hereditary spherocytosis; red cell membrane; spectrin; ankyrin; band 3; spherocytes; haemolysis; folate; folic acid; splenectomy; cholecystectomy; cholecystostomy; laparoscopic; gallstones; pneumococcal; vaccination; penicillin prophylaxis. Only the abstracts were read of papers in languages other than English. The writing group produced the draft guideline, which was subsequently revised by consensus by members of the General Haematology Task Force of the British Committee for Standards in Haematology (BCSH). The guideline was then reviewed by a sounding board of approximately 50 UK haematologists, the BSCH and the British Society for Haematology Committee and comments incorporated where appropriate. The 'GRADE' system was used to quote levels and grades of evidence, details of which can be found in Appendix I. The objective of this guideline is to provide healthcare professionals with clear guidance on the management of HS. In all cases individual patient circumstances may dictate an alternative approach. Summary of key recommendationsDiagnostic testing (confirmation of previous guidelines)

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“…Phenotypical tests alone are not able to detect those types of variants association, which diagnosis is very important because of its therapeutical consequences as splenectomy. Such association of several deleterious variants in genes causing RBC diseases is poorly described[50][51][52] and is probably due to the ethnic origin, notably for P36 family, in coming from Comoros Islands, a region of endemic malaria. Plasmodium is known to exert a selective pressure on various RBC proteins[53].Our study also emphasizes the usefulness of exomic approach in the field of CHA, both for discovery of candidate genes (as TRPV4 or ADAR) and diagnosis reorientation.…”

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confidence: 99%

Exome sequencing for diagnosis of congenital hemolytic anemia

Mansour‐Hendili

Aissat

Badaoui

et al. 2020

Preprint

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Background: Congenital hemolytic anemia constitutes a heterogeneous group of rare genetic disorders of red blood cells. Diagnosis is based on clinical data, family history and phenotypic testing, genetic analyses being usually performed as a late step. In this study, we explored 40 patients with congenital hemolytic anemia by whole exome sequencing: 20 patients with hereditary spherocytosis and 20 patients with unexplained hemolysis.Results: A probable genetic cause of disease was identified in 82.5% of the patients (33/40): 100% of those with suspected hereditary spherocytosis (20/20) and 65% of those with unexplained hemolysis (13/20). We found that several patients carried genetic variations in more than one gene (3/20 in the hereditary spherocytosis group, 6/13 fully elucidated patients in the unexplained hemolysis group), giving a more accurate picture of the genetic complexity of congenital hemolytic anemia. In addition, whole exome sequencing allowed us to identify genetic variants in non-congenital hemolytic anemia genes that explained part of the phenotype in 3 patients.Conclusion: The rapid development of next generation sequencing has rendered the genetic study of these diseases much easier and cheaper. Whole exome sequencing use for congenital hemolytic anemia could provide a more precise and quicker diagnosis, improve patients’ healthcare and probably has to be democratized notably for complex cases.

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Southeast Asian ovalocytosis in an African-American family [letter]

Cited by 10 publications

References 0 publications

Erythrocyte polymorphisms in five ethnic groups of Northern Côte d’Ivoire

Erythrocyte polymorphisms in five ethnic groups of Northern Côte d’Ivoire

Guidelines for the diagnosis and management of hereditary spherocytosis – 2011 update

Exome sequencing for diagnosis of congenital hemolytic anemia

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