Clinical, hematologic and biosynthetic studies in sickle cell‐β°‐thalassemia: A comparison with sickle cell anemia

Abstract

The diseases commonly confused with sickle cell anemia include sickle cell beta-thalassemia in which synthesis of betaA-chains are completely suppressed (HbS-betao-thalassemia). We obtained hematologic measurements and studied globin biosynthesis in five patients with this disorder and compared the results with those obtained in five patients with "mild" sickle cell anemia and seven individuals with sickle cell-beta-thalassemia having hemoglobin A levels of 20-30% (HbS-beta+-thalassemia). A distinction between HbS-betao-thalassemia and sickle cell anemia was not always possible on clinical, hematologic, or electrophoretic grounds. Thalassemia heterozygotes had hypochromia and microcytosis, not generally a feature of sickle cell anemia, although overlap of values did exist. The ratio of alpha to non-alpha, or alpha to betaS-chains in sickle cell anemia approximated unity, whereas patients with HbS-betao-thalassemia had a deficit of beta-chain production relative to that of the alpha-chain. The differentiation of HbS-betao-thalassemia and sickle cell anemia can be best made on the basis of family or biosynthetic study. We estimated the regional prevalence of HbS-betao-thalassemia to be 1:23,000 of the black population.

Sickle Cell-<i>&beta;</i>&deg;-Thalassaemia in Saudi Arabia

“…The results of this study confirm previ ous reports on the clinical and haemato logical parameter values in S//J°-thalassaemia patients [1,2,5,[16][17][18] and show that this condition has a greater clinical and haematological severity than that in S//J+-thalassaemia [1,19] and shows mani festations similar to those in sickle cell anaemia [20].…”

Variations in Globin Synthesis in Delta‐Beta‐Thalassaemia

“…In four patients with Hb S-p'-thalassaemia previously described from our laboratory, the ( f l ' +~) / a ratios were 0.48, 0.57, 0.64, and 0.67 (Friedman et al, 1973;Kim et al, 1977). Five other reported patients with Hb S-Po-thalassaemia had PS/a ratios from 0.32 to 0.79 (Steinberg et al, 1976). The range ofP/a ratios in the doubly heterozygous patients with Hb S-Gfl-thalassaemia is similar to that observed in G/3-thalassaemia trait in the present study.…”

Erythrocyte Calcium Abnormalities and the Clinical Severity of Sickling Disorders

“…Diagnoses of the latter two patients were confirmed by globin chain synthesis studies (Steinberg & Dreiling, 1976). Diagnoses of the latter two patients were confirmed by globin chain synthesis studies (Steinberg & Dreiling, 1976).…”

“…Thirty-one patients with sickling haemoglobinopathies were studied: 26 patients with HbSS disease, two with HbSC disease, and one each with HbSO Arab disease, HbSIP thalassaemia and HbS/fi+ thalassaemia. Diagnoses of the latter two patients were confirmed by globin chain synthesis studies (Steinberg & Dreiling, 1976). The clinical features of the HbSS disease patients are outlined in Table I. Criteria and methods for the diagnosis of sickling haemoglobinopathies have been previously published (Steinberg et al, 1973;Steinberg & Adams, 1978).…”