Clinical and laboratory features of Hemoglobin La Desirade variant in association with sickle cell and alpha thalassemia genes Clinical & laboratory features of Hb La Desirade trait and compound heterozygous for Hb La Desirade and HbS Hemoglobin.
Main Article Content
Keywords
Sickle cell trait, sickle cell disease, Hemoglobin La Desirade, unstable hemoglobin variant, alpha thalassemia
Abstract
Abstract
Hemoglobin La Desirade (Hb La Desirade) is an unstable hemoglobin variant characterized by amino acid Alanine (Ala) replacing Valine (Val) at position 129 (H7) in the beta chain. Hb La Desirade exhibits a decreased oxygen affinity and normal heme-heme interaction. Interestingly, on analysis by standard electrophoresis, it migrates in the same region as normal HbA, and HbA actually represents a combination of HbA and Hb La Desirade together. This variant was reported as compound heterozygous with other Hemoglobin variants such as HbS, HbC or beta thalassemia, and more recently with Southeast Asian ovalocytosis and Hb Louisville with varying clinical manifestations. Herein, we describe the clinical and laboratory findings in a number of Omani Arab families who presented to our service for various reasons, presenting with Hemoglobin La Desirade with sickle gene and alpha thalassemia. Our patients with Hb La Desirade trait, were clinically asymptomatic with no evidence of anemia. However when it is associated with other abnormal hemoglobin variants such as HbS, leading to sickle/La Desirade compound heterozygosity, there was mild anemia with significant degree of hypochromia and microcytosis. The most striking feature was that the levels of HbS and HbA were almost equal on HPLC, and these cases could be misdiagnosed as sickle cell trait (SCT). However, the levels of Hb S in these compound heterozygotes (40.4-45.9) were higher than normally seen for the diagnosis of SCT in this population.
Downloads
Abstract 1026
PDF Downloads 251
HTML Downloads 142
References
1. The Malaria Genomic Epidemiology Network. Reappraisal of known malaria resistance loci in a large multicenter study. Nat Genet. 2014; 46:1197–1204.
2. http://globin.bx.psu.edu/cgi-bin/hbvar/counter accessed on Sept.4th, 2020.
3. Merault G, Keclard L, Garin J, Poyart C, Blouquit Y, Arous N, Galacteros F, Feingold J, Rosa J. Hemoglobin La Desirade alpha A2 beta 2 129 (H7) Ala----Val: a new unstable hemoglobin. Hemoglobin, 10(6):593-605, 1986.
4. Kamseng P, Trakulsrichai S, Trachoo O, Yimniam W, Panthan B, Jittorntam P, Niparuck P, Sanguanwit P, Wananukul W, Jindadamrongwech S. Low oxygen saturation and severe anemia in compound heterozygous Hb Louisville [?42(CD1)Phe?Leu] and Hb La Desirade [?129(H7)Ala?Val]. Hematology, 2017 Mar; 22(2):114-118.
5. Picard V , Proust A , Eveillard M, Flatt JF, Couec ML , Caillaux G , Fénéant-Thibault M , Finkelstein A, Raphaël M, Delaunay J , Bruce LJ , Pissard S , Thomas C. Homozygous Southeast Asian ovalocytosis is a severe dyserythropoietic anemia associated with distal renal tubular acidosis. Blood 2014,123 (12):1963-5
6. Hassan SM, Harteveld CL, Bakker E, Giordano PC. Broder spectrum of ?-thalassemia mutations in Oman: regional distribution and comparison with neighboring countries. Hemoglobin 2015; 39(2):1-4
7. Alkindi, S., Al Zadjali S, Al Madhani A, Daar S, Al Haddabi H, Al Abri Q, Gravell D, Berbar T, Pravin S, Pathare A, Krishnamoorthy R. Forecasting Hemoglobinopathy Burden Through Neonatal Screening in Omani Neonates, Hemoglobin, 2010; 34(2), 135-144.
8. Alkindi SS, Alzadjali S, Daar S, Sindhuvi E, Wali Y, Pathare AV, et al. A stepwise ?-thalassemia screening strategy in high-prevalence areas experience (1995-2006). Eur J Haematol, 2013, Aug; 91(2):164-9.
9. Al Zadjali S, Wali Y, Al Lawatiya F, Gravell D, Alkindi S, Al Falahi K, Krishnamoorthy R, Daar S. The ?-globin promoter -71 C>T mutation is a ?+ thalassemic allele. Eur J Haematol, 2011, Nov; 87(5):457-60. doi: 10.1111/j.1600-0609.2011.01687.x.
10. Harthoorn-Lasthuizen EJ, Lindemans J, Langenhuijsen MM. Influence of iron deficiency anaemia on haemoglobin A2 levels: possible consequences for beta-thalassaemia screening. Scand J Clin Lab Invest. 1999, Feb; 59(1):65-70.
Article Sidebar
Article Details
How to Cite
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Transfer of Copyright and Permission to Reproduce Parts of Published Papers. Authors will grant copyright of their articles to the Institute of Hematology, Catholic University, Rome . No formal permission will be required to reproduce parts (tables or illustrations) of published papers, provided the source is quoted appropriately and reproduction has no commercial intent. Reproductions with commercial intent will require written permission and payment of royalties.