Haemoglobin So-Arab In A Child From Southwestern Nigeria: Case Report And Review Of Literature
Keywords:
Nigeria, Haemoglobin SO-Arab, ChildAbstract
Haemoglobin (Hb) SO-Arab, a compound heterozygous haemoglobinopathy comprising of Hb S and O-Arab, has not been reported previously in Nigeria. This report describes an 18-month old girl from South-western Nigeria diagnosed by high performance liquid chromatography (HPLC) and reviews information about the geographic distribution, clinical and haematological characteristics of patients with Hb SO-Arab.
At the age of five months, the child who was initially diagnosed as having Hb SC genotype by alkaline cellulose acetate electrophoresis, experienced recurrent severe haemolytic crisis, severe sepsis, early onset dactylitis and some other clinical and haematological phenotypes similar to homozygous Hb S disease. Presence of severe disease in a child diagnosed as Hb SC by cellulose acetate alkaline electrophoresis should alert clinicians to the possibility of another haemoglobinopathy such as Hb SO-Arab. Hence, to make accurate diagnosis of haemoglobinopathy in the absence of gene-based analysis, it may be necessary to combine HPLC with the more frequently used alkaline cellulose acetate and/or acidic citrate agar electrophoresis.
Downloads
References
Thom CS, Dickson CF, Gell DA, Weiss MJ. Hemoglobin variants: biochemical properties and clinical correlates. Cold Spring Harb Perspect Med. 2013; 3(3): a011858.
Torres LS, Okumura JV, Silva DGH, BoniniDomingos CG. Rev Bras Hematol Hemoter. 2015; 37(2): 120–126.
Hardison R, Chui D, Giardine B, Riemer C, Patrinos G, Anagnou N, Miller W, Wajcman H. HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat 2002; 19: 225–233.
Frenette PS, Atweh GF. Sickle cell disease: old discoveries, new concepts, and future promise. J Clin Invest. 2007; 117(4): 850–858.
Zimmerman SA, O'Branski EE, Rosse WF, Ware RE. Hemoglobin S/O(Arab): thirteen new cases and review of the literature. Am J Hematol. 1999; 60(4): 279-284.
Adekile A, Mullah-Ali, Akar NA. Does Elevated Hemoglobin F Modulate the Phenotype in Hb SD-Los Angeles? Acta Haematol 2010; 123: 135–139.
Chami B, Blouquit Y, Bardakdjian-Michau J, Riou J, Wajcman H, Rosa J, et al. Hemoglobin variants in North Africa. Hemoglobin 1994; 18: 39.
Maeda K, Kini RK, Saeed SM, Rucknagel DL. Hemoglobin SO Arab and hemoglobin CO Arab diseases. Am J Pediatr Hematol Oncol 1983; 5: 127.
Gilman PA, Abel AS. Acute splenic sequestration in hemoglobin sickle O-Arab disease. Johns Hopkins Med J 1980; 146: 285.
Papadopoulos V, Vassiliadou D, Xanthopoulidis G, Petridis D, Agorasti A, Loukopoulos D. The implications of haemoglobin O-Arab mutation. Haema 2003; 6(4): 479-485.
Hafsia R, Gouider E, Ben SM, Ben NS, Elborji W, Hafsia A. Hemoglobin O Arab: about 20 cases. Tunis Med 2007; 85(8): 637-640.
Sangaré A, Sanogo I, Meite M, Ambofo Y, Abesopie V, Segbena A, et al. Hemoglobin O Arab in Ivory Coast and Western Africa. Médicine Tropicale: Revue du Corps de Santé Colonial. 1992; 52(2): 163-167.
Adachi K, Kim J, Ballas S, Surrey S, Asakura T. Facilitation of Hb S polymerization by the substitution of Glu for Gln at β121. J Biol Chem 1988; 263 (12): 5607–5610.
O'Keeffe EK, Rhodes MM, Woodworth A. A patient with a previous diagnosis of hemoglobin S/C disease with an unusually severe disease course. Clin Chem. 2009; 55(6): 1228-1231.
Ryan K, Bain BJ, Worthington D, James J, Plews D, Mason A, et al. British Committee for Standards in Haematology. Significant haemoglobinopathies: guidelines for screening and diagnosis. Brit J Haematol. 2010; 149(1): 35-49.
Joutovsky A, Nardi M. Hemoglobin C and Hemoglobin O-Arab Variants Can Be Diagnosed Using the Bio-Rad Variant II HighPerformance Liquid Chromatography System Without Further Confirmatory Tests. Arch Pathol Lab Med. 2004; 128(4): 435-439.
Downloads
Published
Issue
Section
License
Copyright (c) 2023 Nigerian Journal of Haematology
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
