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

The combination of Hb E,alpha-thalassaemia and Hb CoSp was found in a 20-year-old female Malay who presented with a moderately severe haemolytic anaemia. The findings in the patient and her family from which this diagnosis was arrived at are discussed. Although this is the first report of this condition in this country it is pointed out that one may see more such cases in the future if one is aware of this condition since Hb E, alpha-thalassaemia and Hb CoSp all occur at significant frequencies in this country.
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PMID:Interaction of haemoglobin E with alpha-thalassaemia and haemoglobin Constant Spring. 40 65

Heterozygous classical beta-thalassemia was found in 13 subjects of pure German descent, 11 of them from the Bergische Land (NW Germany) during the past three years. Clinically it became manifest in a moderate degree of anemia with marked hypochromia and reduced mean corpuscular volume. The number of red blood corpuscles and the value for serum iron were ascertained to be in the upper limits of normal or raised. The diagnosis of Mediterranean anemia was confirmed by hemoglobin electrophoresis with a rise in HbA2 of more than 3%. A slight increase in HbF may also occur. The importance of genetic counseling of thalassemia patients is emphasized. The occurrence of thalassemia even in pure German populations must be increasingly reckoned with.
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PMID:[Thalassemia minor in families of German descent in the Bergische Land (author's transl)]. 40 46

In hypochromic anaemias (heterozygous beta-thalassaemia and iron deficiency anaemia) ligher red cells lose more K+ than heavier ones, following incubation at 37 degrees C for 24 h. Both in the light and heavy fractions two subpopulations of cells with different permeability to K+ can be separated by a new centrifugation after incubation. On the basis of the results, a relationship between K+ permeability and probability of survival in hypochromic cells is suggested.
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PMID:Permeability of membrane to potassium in hypochromic red cells with different specific density. 40 29

By use of isoelectric focusing in polyacrylamide gel rods we were able to detect traces of HbA (approx. 1%) as a sharp and discrete band. By overloading the gel considerable amounts of HbA (slightly contaminated with HbF) could be detected and isolated. The focused HbA was retrieved from the gels, separated from the carrier-ampholytes and concentrated by a one-step electrophoresis technique. With 3H-leuci ne-labelled haemolysates, after globin chain separation on CM-cellulose, an increase of the beta-chain counts relative to gamma-chain counts was obtained. The study of two cases of high HbF homozygous beta-thalassaemia has demonstrated that this technique may be a valuable tool in detecting minute amounts of HbA mainly in high HbF beta-thalassaemias.
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PMID:A new approach to the diagnosis of beta-thalassaemia. 41 Feb 23

This paper presents the results of a survey of Japanese for electrophoretic variants of CA I, CA II, LDH, MDH, TPI, NP, HB A and A2, the number of determinations per system ranging from 738 to 4029. Four similar variants of CA I (designed CA IHIR1), one of LDH (designated LDHNGS1), one of MDH (designated MDHS 7HIR1), two of HB A (one a reascertainment of HB Hijiyama, the other not characterized), and one characterized by the absence of HB A2 (delta-thalassaemia) were observed and are described. The CA IHIR1, LDHNAG1 and MDHS 2HIR1 variants have not been previously observed in Japan. No electrophoretic variants were found in the TPI and NP systems.
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PMID:The frequency in Japanese of genetic variants of 22 proteins II. Carbonic anhydrase I and II, lactate dehydrogenase, malate dehydrogenase, nucleoside phosphorylase, triose phosphate isomerase, haemoglobin A and haemoglobin A2. 41 14

Iron deficiency anaemia secondary to menorrhagia was observed in a woman of Greek Cypriot origin. Moderate thrombocytopenia was also present. Treatment with parenteral and oral iron produced a transient thrombocytosis, the platelet count then returning to normal. Subsequent analysis revealed that she also carried the alpha1-thalassaemia trait. Previous reports of thrombocytopenia responsive to iron treatment are reviewed.
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PMID:Thrombocytopenia and iron deficiency anaemia in a patient with alpha1-thalassaemia trait. Response to iron therapy. Case report. 41 76

20 patients with beta-thalassemia intermedia classified according to the results of genetic studies are presented. (1) 9 patients with beta-thalassemia intermedia homozygous for beta-thalassemia with increased Hb-A2 are reported. (2) 8 patients with beta-thalassemia intermedia, 3 homozygous for beta-thalassemia with normal levels of Hbs.A2 and F, 5 heterozygous for both this and beta-thalassemia with increased Hb-A2 are presented. (3) 2 families with beta-thalassemia intermedia heterozygous for both beta-thalassemia with increased HbA2 and 'silent" beta-thalassemia are reported. Two different varieties are presented.
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PMID:Different types of beta-thalassemia intermedia. A genetic study in 20 patients. 41 39

Clinical and haematological features in 41 patients with sickle cell-beta0 thalassaemia (Sbeta0 thalassemia) and in 123 age--sex matched controls with homozygous sickle cell (SS) disease were compared. Persistence of splenomegaly was more common and fetal loss less common in Sbeta0 thalassemia but other clinical features were similar in the two genotypes. Total haemoglobin, Hb A2, PCV, CCV, and red cell count were significantly higher and MCV, MCH, MCHC, and ISC counts significantly lower in Sbeta0 thalassaemia. Proportional reticulocyte counts were significantly lower in Sbeta0 thalassaemia but there was no difference in absolute reticulocyte counts. Persistence of splenomegaly and low ISC counts are compatible with decreased intravascular sickling which may result from the lower mean cell haemoglobin S concentration in Sbeta0 thalassaemia. If beneficial effects of a low MCHC can be confirmed then a carefully monitored trial of iron deficiency in SS disease may be a logical experimental procedure.
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PMID:Comparison of sickle cell-beta0 thalassaemia with homozygous sickle cell disease. 42 Jul 38

Five cases of HbH disease were discovered in a large family of American Blacks. Anaemia was mild with PCV ranging from 0.275 to 0.405. The amount of HbH was 2--6%. Studies of haemoglobin synthesis in peripheral blood reticulocytes demonstrated marked deficits in alpha globin production with an average alpha/beta ratio of 0.31 (range 0.22--0.36). Eighteen additional family members had evidence of thalassaemia trait and were provisionally classified as either alpha-thal-1 (average MCV 65.2 fl; range 59--70) or alpha-thal-2 (average MCV 79.6 fl; range 74--88). A subject with altha-thal-1 trait had an alpha/beta ratio of 0.56; the average for five cases of alpha-thal-2 was 0.73. One other family member was thought to be homozygous for alpha-thal-2 trait and exhibited an MCV of 65 fl with an alpha/beta ratio of 0.5. These data reconfirm that in Blacks with alpha thalassaemia the proportion of HbH is lower and the severity of anaemia is less than in certain other racial groups, e.g. Southeast Asians. However, the degree of hypochromia and microcytosis and the imbalance in alpha and beta globin synthesis appear to be similar in Blacks and other races. These results suggest that the milder clinical course of HbH disease in Blacks is not a result of greater alpha globin production in that population of thalassaemics.
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PMID:Alpha thalassaemia in American blacks: a study of a family with five cases of haemoglobin H disease. 42 29

Our paper describes two Sardinian families with alpha-beta thalassaemia interaction. In the first (family S), the propositus, whose haemoglobin pattern at birth consisted of about 25% Hb Bart's and 75% Hb F, successively developed a clinical and haematological picture typical of Cooleys anaemia. Haematological and globin chain synthesis studies together with these findings suggest that he is homozygous for beta 0 thalassaemia and heterozygous for alpha thalassaemia-1 and alpha thalassaemia-2. This conclusion is further substantiated by the finding of various combination of alpha and beta thalassaemia among his family members. In the P family two twins whose haemoglobin pattern and synthesis data at birth were similar to those of the proband of family S died in the neonatal period. The mother was assumed to be a compound heterozygte for alpha thalassaemia-2 and beta 0 thalassaemia and the father for alpha thalassaemia-1 and beta 0 thalassaemia. The homozygous state for beta 0 thalassaemia in association with the alpha thalassaemia 1 and alpha thalassaemia 2 genes results in a severe clinical picture similar to that of a homozygous beta 0 thalassaemia. The interaction between the heterozygous state for beta 0 thalassaemia and the alpha thalassaemia 1 or alpha thalassaemia 2 genes, or the combination of both, results in a haematological picture similar to that of a beta thalassaemia heterozygote.
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PMID:Interaction of alpha and beta thalassaemia genes in two Sardinian families. 42 30


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