Lab findings showed a drop in cortisol levels, elevation of muscle enzymes, 'pseudohypertriglyceridaemia' and raised levels of glycerol in plasma and urine. Karyotype and neuroimaging tests were normal. A myopathic pattern was observed in the electromyogram. The genetic study confirmed the deletion...
Of interest is the results of multiple logistic regression analysis which indicated that either one α-gene defect, two α-gene defects, Hb E trait, or homozygous Hb E were important risk factors of anemia in this studied population. The findings of greater association with anemia of two α-...
Chinese Gγ+(Aγδβ)0-thalassemia and SEA-HPFH are the most common types of β-globin gene cluster deletion in Chinese population. The aim of the study was to analyze clinical features of deletional Chinese Gγ+(Aγδβ)0-thalassemia and Southeast Asian hereditary persistence of fetal hemo...
The silent carrier state is due to heterozygosity of a-thalassemia-2; a-thalassemia trait is caused either by heterozygosity of a-thalassemia-1 or by hom- ozygosity of a-thalassemia-2; HbH disease is produced by com- pound heterozygosity for a-thalassemia-1 and a-thalassemia-2; the ...
Non-HFE Hemochromatosis in the Context of β-Thalassemia Trait: A Case Study on Iron Overload Dysregulation. [Case Reports] Cureus. 2024 Nov; 16(11):e74431.Jensen K, Hammer A, … Hazin MC Thalassemia and hemochromatosis are two distinct conditions that involve dysregulation of iron metabolism...
We further retained pseudogenes with SNPs in the flanking 10 Kb region meeting one of the following two criterions: 1) more than one GWAS SNPs link the gene of interest to the same disease ontology term (Li et al., 2016); 2) the gene has a high-confidence SNP-trait association (P <...
The studies on the parents showed that mother was a compound heterozygote for HbDPunjab and HbC while father had β‐thalassemia trait. To the best of our knowledge, this is the first confirmed report of HbC from India. The paper discusses the hematological findings in this subject and her ...
Hematological and Hemoglobin Synthesis Studies in a Family with Hδβ Thalassemia Traitδβ -ThalassemiaFetal HemoglobinThalassemia intermediaA Basque Spanish family with heterozygous δβ-thalassemia is described. Patients with this anomaly usually present hematological findings observed in classical β-...
Int J Lab Hematol 2016;38(suppl 1):20–26. 33. Galanello R, Melis MA, Ruggeri R, et al. Beta 0 thalassemia trait in Sardinia. Hemoglobin 1979;3:33–46. 34. Danjou F, Anni F, Galanello R. Beta-thalassemia: from genotype to phenotype. Haematologica 2011;96:1573–1575...
Alpha-haemoglobin stabilising protein is a quantitative trait gene that modifies the phenotype of beta-thalassaemia. Br J Haematol 2006;133:675– 682. 68. Galanello R, Perseu L, Giagu N, Sole G, Perra C. AHSP expression in beta thalassemia carriers with thalassemia intermedia phenotype. Blood...