Detection and quantification of Hb subtypes of human blood is integral to presumptive identification of thalassaemias. It has been used in neonatal screening of thalassaemia and Hb variants. The use of discarded red blood cells following processing of the cord blood for stem cells provides readily available diagnostic material for thalassaemia screening. In this study, we determined the range o...

A family study is reported in which all three siblings were shown to be doubly heterozygous for haemoglobin D Los Angeles and beta thalassaemia, which resulted in a complete suppression of haemoglobin A synthesis. This demonstrates the effects of genetic interaction which occur when the genes for haemoglobin D Los Angeles and beta thalassaemia are both transmitted to the offspring. The importan...

In view of the claim that low 25-hydroxyvitamin D (25-OHD) concentrations may contribute to the pathogenesis of bone disease in patients with 13 thalassaemia major and iron overload, we have assessed the concentrations of 25-OHD, la,25 dihydroxyvitamin D (la,25(0H)2D), parathyroid hormone, and osteocalcin in such patients. 25-OHD concentrations were significantly lower in patients with thalassa...

Haemoglobin disorders are hereditary, lifelong and characterised by the need for multifaceted management. The question of quality in meeting standards care that likely to bring best possible outcomes patients is a necessary consideration. concept reference centres supporting peripheral treatment formal networking relationship response real needs practical solution public health terms. In this r...

An English family suffering from thalassaemia minor is described. Three generations are affected, and all the affected members had a considerably raised red cell count in the presence of slight or moderate anaemia, obviously abnormal peripheral films, and only slightly reduced M.C.H.C. values; and each had a moderately raised haemoglobin A(2) level, though foetal haemoglobin levels were normal....

We report 40 cases of homozygous beta thalassaemia, aged between 3 and 24 months, who were observed between January 1990 and June 1996 at the Thalassaemia Centre, Paediatric Department, Catania University. A questionnaire was used to find out the parents' knowledge of their risk before the birth of the affected children and showed that the persistence of Mediterranean anaemia in Sicily was main...

Patients with transfusion-dependent beta (β)-thalassaemia experience a broad range of complications. ULYSSES, an epidemiological, multicentre, retrospective cross-sectional study, aimed to assess the prevalence and severity treatment disease complications, capture management identify predictors complications in patients β-thalassaemia, treated routine settings Greece. Eligible were adults diagn...

Our understanding of the molecular and pathophysiological mechanisms underlying the disease process in patients with thalassaemia intermedia (TI) has substantially increased over the past decade. TI encompasses a wide clinical spectrum of beta-thalassaemia phenotypes. Some TI patients are asymptomatic until adult life, whereas others are symptomatic from as young as 2 years of age. A number of ...

Porphyria cutanea tarda Gaucher's disease von Hippel-Lindau disease Huntington's chorea Polyposis coli Haemochromatosis 21-Hydroxylase deficiency Osteogenesis imperfecta (some forms) Cystic fibrosis Galactosaemia Multiple endocrine neoplasia Ila Sickle cell anaemia and a thalassaemia Acute intermittent porphyria Phenylketonuria (classic) Wilson's disease Retinoblastoma a,-Antitrypsin deficiency...