Background: Red cell microcytosis is a common abnormality detected in a full blood count, which often prompts clinicians to investigate further for a cause. In the absence of iron deficiency and anaemia of chronic disease, the differential diagnosis includes β-thalassaemia trait and α-thalassaemia trait.
Methods: We investigated the contribution of α-thalassaemia trait in South African subjects with unexplained microcytosis. Iron studies, haemoglobin subfractionation and multiplex polymerase chain reaction (PCR) analysis for α-globin gene deletions were performed on 97 controls and 86 patients.
Results: After excluding iron deficiency, anaemia of chronic disease and β-thalassaemia trait, 78.0% of subjects with unexplained microcytosis were confirmed on PCR analysis to have α-thalassaemia trait.
Conclusion: Alpha-thalassaemia trait accounts for the majority of unexplained microcytosis.
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http://dx.doi.org/10.7196/SAMJ.2016.v106i3.10005 | DOI Listing |
Cureus
December 2023
Pediatrics, Armed Forces Hospital Southern Region, Khamis Mushait, SAU.
Leukocyte adhesion deficiency-III (LAD-III) is a rare recessive autosomal disorder characterized by bleeding syndrome of Glanzmann-type and life-threatening infections. The main etiology of this condition is variations in the gene, which encodes kindlin-3, an integrin-binding protein. This protein is responsible for the activation of fibrinogen receptors and integrin-mediated hematopoietic cell adhesion.
View Article and Find Full Text PDFHemoglobin
November 2023
Thalassemia Centre, Damascus, Syria.
α-Thalassemia (α-thal) is a globally prevalent genetic disorder of hemoglobin (Hb) structure where the rate of α-globin chain synthesis is reduced or absent due to the presence of α-globin mutation(s). The aim of this study is to define the spectrum of α-globin gene mutations and evaluate their allele frequency in a group of α-thal carriers. A total of 55 individuals with possible α-thal patients were referred from the thalassemia centers in Syria.
View Article and Find Full Text PDFJ Clin Pathol
October 2024
Centre for Research & Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand
Aims: Krüppel-like factor 1 (KLF1) is an erythroid-specific transcription factor playing an important role in erythropoiesis and haemoglobin (Hb) switching. Biallelic KLF1 mutations can cause haemolytic anaemia with thalassaemia-like syndromes but are rarely reported. We explore the KLF1 mutations in Thai subjects with unexplainable haemolytic anaemia.
View Article and Find Full Text PDFClin Chem
July 2023
Division of Hematopathology, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States.
Mol Biol Rep
August 2020
Department of Pathology, College of Medicine, Hawler Medical University, Erbīl, Iraq.
α-Thalassemia is a globally prevalent genetic disorder of hemoglobin (Hb) structure where the rate of α-globin chain synthesis is reduced or absent based on the underlying α-globin mutation(s). This study aimed to define the spectrum of α-globin gene mutations and assess their relative frequency within a group of α-thalassemia carriers. A total of 96 young subjects with unexplained hypochromia and microcytosis were recruited.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!