A Rare Case of Haemoglobin J-Toronto in a Child
| Autor: | Dr. Tulsi Jariwala, Dr. Aashka Shah, Dr. Riddhi Patel, Dr. Gargi Patel |
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| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | Scholars Journal of Medical Case Reports. 10:690-692 |
| ISSN: | 2347-6559 2347-9507 |
| DOI: | 10.36347/sjmcr.2022.v10i07.022 |
| Popis: | Introduction: India is an ethnically diverse country with marked regional variation. This diversity is often reflected in the presence of different Hemoglobin variants. Hb variants arise due to mutations in the genes encoding for the α-chain and β-chain. Hb J is an infrequently found α-globin variant. It is a Fast moving hemoglobin. Haemoglobin J (Hb-J) was first described by Thorup et al. in an African-American patient (1956) and since then more than 50 variants of Hb-J are identified. Hb J-Toronto [alpha5(A3) Ala>Asp] is one of the rare variants identified. Case report: Blood sample of one year old child for high-performance liquid chromatography was received. The HPLC showed an abnormally high peak in P3 window on BIO RAD D10 machine. The high-performance liquid chromatography showed normal hemoglobin Hb F and Hb A2, but showed elevated levels of P3 (31.7%) which indicates presence of a Hb J variant. Conclusion: Hb J-Toronto is a rare variant of abnormal hemoglobin. It has little clinical significance in heterozygous state but when combined with other variants, they may give rise to severe disease.Prenatal analysis, especially by HPLC, is a key screening method to avoid hemoglobinopathies in off springs. One important clinical condition which may lead to a wrong diagnosis of FMH’s is uncontrolled diabetes mellitus. |
| Databáze: | OpenAIRE |
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