Beta‐Thalassaemia of Clinical Significance in Adult Jamaican Negroes

Abstract

Over a 9-year period, three adult Negro patients with beta-thalassaemia of clinical significance were recognized out of approximately 185 000 new adult patients attending the University Hospital. These patients, aged 15-58 years, have clinical and haematological characteristics within the spectrum of beta-thalassaemia intermedia; which in this paper refers to phenotypes resulting from defects in beta-chain synthesis clinically intermediate between classical Cooley's anaemia and beta-thalassaemia trait, genetic classification being dependent on family study. Family studies established the presence of two beta-thalassaemia genes conclusively in one case (proposita, family A); presumptively in another (propositus, family C); while in the remaining subject (proposita, family B), who has two similarly affected siblings, homozygosity is suspected, but not proven by family study. In simultaneous 59Fe and 51 Cr studies, estimates of effective erythropoiesis are in reasonable agreement with measurements of red cell destruction.

Short report: Spinal cord compression in thalassaemia

“…The diagnosis of B-thalassaemia previously described in the Jamaican negro (Went and MacIver, 1961;Ahern et al, 1975) was established in our cases on the basis of the peripheral blood picture, the high level of fetal haemoglobin, and the family history. These patients constitute examples of the mild type of thalassaemia seen in Jamaica where the incidence of the trait is 0.8% (Ahern et al, 1973).…”

Estimation of serum ferritin and TSH levels in thalassemia patients undergoing iron chelation therapy

“…In the past 20 years, the two important Forms of this disorder,α-and β-thalassemia, resulting from the defective synthesis of the α-and β-globin chains of hemoglobin, respectively, have been recognized as the most common monogenic diseases in humans. 1,2,6 Under physiologic conditions, the concentration of iron in the human body is carefully regulated and normally maintained at approximately 40 mg iron/ kg body weight in women and approximately 50 mg iron/kg body weight in men, distributed among functional, transport and storage components. 2,3,7 Chronic blood transfusion is associated with many untoward complications like blood borne infections, isoimmunisation, febrile reactions and iron overload.…”

“…This increased body iron can damage vital organs like heart, pituitary, thyroid,pancreas etc., causing morbidity and mortality. 6,7,25,36 Hypothyrodism is one of the most common endocrine complications in thalassaemics. Serum ferritin estimation reflects serum T.S.H.…”