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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Thalassaemia with normal levels of Hb A2 and Hb F and with an alpha/beta ratio higher than 1 is described in 4 families. 3 of these families show direct or indirect signs of the presence of the delta-thalassaemia gene along with the beta-thalassaemia gene. The fourth family leaves the question as to whether there is a single mutation of the deltabeta tract or a beta + delta-thalassaemia in coupling unanswered. The necessity of knowing of the existence of this thalassaemia which conceals the presence of a beta-thalassaemia gene, is stressed, above all in view of the danger that mating between a carrier of this thalassaemia and a carrier of classical beta-thalassaemia could result in the birth of children with Cooley's disease.
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PMID:Heterozygous beta-thalassaemia with normal haemoglobin pattern. Haematologic, haemoglobin and biosynthesis study of 4 families. 9 91

The haematological findings resulting from the interaction of Hb A2 Indonesia trait with beta-thalassaemia trait and HbA2 Ind trait with Hb E trait are discussed. A person doubly heterozygous for Hb A2 Ind and beta-thalassaemia had mild haematological abnormalities essentially similar to those found in persons with beta-thalassaemia trait alone. A carrier for both Hb A2 Ind trait and Hb E trait had essentially normal haematological findings.
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PMID:Interaction of Hb A2 Indonesia trait with beta-thalassaemia trait and with Hb E trait. 9 92

Two conditions are liable to lower the alpha:beta globin biosynthesis ratio in reticulocytes: iron deficiency and alpha-thalassaemia. The present paper studies the effect of haemin on reticulocytes from 12 patients who have alpha-thalassaemia and/or are iron deficient. The alpha:beta globin biosynthesis ratio was improved in all these cases. 4 showed initially an alpha:beta synthesis ratio usually associated with alpha-thalassaemia type-1; on the addition of haemin the ratio rose to that associated with alpha-thalassaemia type-2. In the other 8 patients the ratio was initially typical for alpha-thalassaemia type-2, and on addition of haemin the ratio became normal. It is suggested that in iron deficient patients a diagnosis of alpha-thalassaemia type-1 or type-2 cannot be made unless haemin has been added to the test system. If this is not done iron deficiency alone can cause the alpha:beta globin synthesis ratio to resemble that associated with alpha-thalassaemia type-2, and iron deficiency in combination with alpha-thalassaemia type-2 can cause the ratio to resemble that typical for alpha-thalassaemia type-1. Reticulocytes from 8 alpha-thalassaemic patients without iron deficiency did not show a marked haemin effect (less than 5%), and in 1 patient with iron overload, the ratio actually fell by about 10%.
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PMID:Interaction between iron deficiency and alpha-thalassaemia: the in vitro effect of haemin on alpha-chain synthesis. 9 95

Serum lipids, phospholipid fractions and the composition of serum lipid fatty acids were studied in 20 children presenting beta-thalassaemia major, 20 heterozygous children and 20 normal controls. Total serum phospholipids, their fractions and cholesterol were significantly lower in patients with thalassaemia major. These changes were referred to hepatic damage and to severe anaemia, respectively. Some serum lipid polyunsaturated fatty acids were significantly decreased in patients with thalassaemia major as compared to heterozygotes and normal controls. Since these alterations are a sign of lipid oxidation, the causes of this phenomenon are discussed.
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PMID:Serum lipid pattern in beta-thalassaemia. 9 49

In 30 children with homozygous beta-thalassemia the hemostasis screening tests (bleeding time, PT, PTT), platelet count and specific assays of clotting factors were carried out 25 days after their last transfusion. PT, PTT, and bleeding time showed minor variations; considerable thrombocytosis was found in splenectomized patients. Factors IX and XII were decreased in a high proportion of patients, the vitamin K-dependent factors (II, VII, IX, X) were slightly reduced and factors I, V and VIII remained within the normal range in a majority of patients. Hepatic failure resulting in defective protein synthesis does not explain the more marked impairment of factors XI and XII, which might be secondary to activation of the intrinsic coagulation and/or kallikrein systems following intravascular haemolysis and multiple blood transfusions.
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PMID:Screening coagulation tests and clotting factors in homozygous beta-thalassemia. 10 56

Data are presented on several polymorphic genetic markers in 200 Greek gypsies. Polymorphic loci studied were: the ABO, MN, Rhesus, Kell and Duffy blood groups, hemoglobin, and ceruloplasmin. A survey for congenital malformations and hereditary diseases was also carried out on this group. The ABO, Rhesus, MN and Duffy system frequencies varied significantly from the figures obtained for the Greek population. However, there is a characteristic similarity between various gypsy groups studied in other nations and the distribution of polymorphic traits in the Punjab region of India. Cystic fibrosis, renal tubular acidosis, 21-hydroxylase deficiency, Hoty-Oram syndrome and homozygous beta-thalassemia were diagnosed within the gypsy group studied.
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PMID:Genetic structure of the Greek gypsies. 10 65

A Basque Spanish family with heterozygous deltabeta-thalassemia is described. Patients with this anomaly usually present hematological findings observed in classical beta-thalassemia, but clinical conditions and unbalanced chain synthesis are less severe. Our propositus, however, presented clinical and biosynthetic data similar to those described in thalassemia intermedia. A family study was also performed.
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PMID:Hematological and hemoglobin synthesis studies in a family with deltabeta-thalassemia trait. 10 37

The haematological indices of cord bloods from 430 South African Negro babies were determined by electronic cell counting and their haemoglobin (Hb) patterns examined by alkaline cellulose acetate electrophoresis. A fast-moving, anodal band, identified as Hb Bart's, was found in 7 (1,6%) of the specimens, this being the lowest incidence of the variant yet found in an indigenous African population. The levels of Hb Bart's ranged from 1.3 to 5.5% of the haemoglobin. These findings were confirmed by alkaline-starch gel electrophoresis and at the same time absence of the slow-moving haemoglobin, Hb Constant Spring was established. Subsequent follow-up of 4 of the infants at 4 months of postnatal life showed that the abnormal component had disappeared. The babies with Hb Bart's had a marked microcytosis and low mean corpuscular haemoglobin levels whilst their parents showed no haematological or electrophoretic signs of alpha-thalassaemia. The significance of these findings is discussed in the light of previously reported studies on various Negro groups.
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PMID:Hb Bart's and its significance in the South African Negro. 10 38

The auditory function of 75 children affected by homozygous beta0-thalassemia, managed with a low transfusion scheme and treated irregularly with low doses of desferrioxamine, and of 75 controls were examined. In 12 patients a mild bilateral conductive hearing impairment due to bony hypertrophy and/or adenoid hypertrophy was found. In 43 cases a moderate monolateral or bilateral sensory-neural hearing loss at high frequencies with recruitment phenomenon was observed. Ferritin levels were determined in a randomly chosen group of these patients with (14) and without heaing loss (11). In the subjects with sensory-neural hearing loss the mean ferritin levels were significantly higher than in those with no hearing defect. There was no obvious relation between sensory-neural damage on the one hand and Hb levels and unit of blood transfused on the other. The results of this study suggest that iron overload could be a cause of damage in the high frequency elements of the auditory mechanism. Intermittent hypoxia and slow 8th nerve compression due to bony hypertrophy as causes of auditory involvement are also discussed.
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PMID:Auditory involvement in thalassemia major. 10 1

Globin chain synthesis has been investigated for the first time in 2 patients homozygous for haemoglobin Lepore, although the 2 brothers have the same haemoglobin genotype the severity of the diseases is very different. The purpose of this study was to try and find out the reason for the different severity in the clinical manifestations. In the 2 patients a different excess of alpha-chain synthesis was observed, the higher excess being present in the subject carrying the more severe anaemia. This result strongly suggests that in homozygous haemoglobin Lepore disease, as in beta-thalassaemia, the degree of globin chain imbalance is responsible for the clinical manifestations.
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PMID:Synthesis of alpha, delta-beta and gamma chains by reticulocytes from two brothers homozygous for haemoglobin Lepore. 10 2


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