Sickle Cell Disease in Jordan: The Experience of a Major Referral Center
| Autor: | Raida Oudat, Hala A Alsoukhni, Rawan A Al-Hiari, Heba S Abualruz, Eman A Al-Mashaqba, Ma'mon Abu Hammad, Nazih Kh Abu Al-Shiek |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Sickle/beta thalassemia Male medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Genotype Thalassemia Population Alpha-thalassemia Anemia Sickle Cell Comorbidity 030105 genetics & heredity Compound heterozygosity Gastroenterology 03 medical and health sciences 0302 clinical medicine Internal medicine hemic and lymphatic diseases medicine IVS-1-110 Humans education Child Referral and Consultation Retrospective Studies education.field_of_study Sickle cell trait Original Paper Jordan business.industry Hemoglobin variants Genetic Variation Infant General Medicine medicine.disease Sickle cell anemia Sickle Beta Thalassemia Phenotype IVS-II-745 Child Preschool Mutation α3.7 Female business 030215 immunology |
| Zdroj: | Medical Archives |
| ISSN: | 1986-5961 0350-199X |
| Popis: | Introduction Sickle cell disorders are the most frequently encountered hemoglobin variants in Jordan. Both alpha and beta thalassemias are also prevalent in this population. However, studies on the interaction between these hemoglobin disorders are lacking. Aim To determine the genotypes responsible for Sickle cell disease in Jordan, by retrospectively reviewing the data from a major referral center in the country's capital. Methods A total 29,712 peripheral blood samples referred and investigated for hemoglobinopathies over a 10-year period at Princess Iman Center at Amman, Jordan were retrospectively reviewed. In addition to full blood counts, high performance liquid chromatography, those who were identified with sickle cell hemoglobin were studied using polymerase chain reaction and reverse hybridization to determine the various sickle cell disease genotypes. Results Out of the (29,712) blood samples, 450 were sickle cell trait, while 216 had sickle cell disease. Of the latter: 120 were found to be cases of Sickle cell anemia (Hb SS), 66 were compound heterozygous for Sickle cell and a beta thalassemia mutation (Sickle/β-thalassemia), while 30 had concomitant alpha thalassemia (HbSS/alpha thalassemia). The most frequent genotype associated with sickle/β-thalassemia was HbS/ IVS-110 (G>A), followed by Hb S/IVS-I-6 (T>C), HbS/IVS-II-745 (C>G) and HbS/ IVS-II-1 (G>A). While the most frequent alpha genotype detected in HbSS/α-thalassemia samples was (-α3.7/αα) followed by (-α3.7/-α3.7). Hb SS patients had the severest hematological phenotype compared to those with sickle/β-thalassemia and sickle/ α-thalassemia. Furthermore, within the sickle/β-thalassemia subgroup the least severe hematological phenotype was encountered in HbS/IVS-1-6 (T>C), while the most severe in HbS/IVS-II-1 (G>A) genotype. Conclusion The most frequent Sickle cell disease genotype in Jordanians is Sickle cell anemia (HbSS), followed by Sickle/β-thalassemia and least frequent is HbSS/alpha thalassemia. The concomitant identified thalassemia mutations were consistent with their spectrum among the Jordanian population. |
| Databáze: | OpenAIRE |
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