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

After reviewing the most recent genetic, biochemic, pathogenetic and laboratory aspects of thalassemia, the Authors refer to a statistical survey of the population of Alghero regarding the thalassemia heterozygote. In order to arrive at the "microcytosis" condition, a study of the average corpuscle volume is recommended as a screening standard. For this purpose, and for technical and economical reasons, automatic continuous flows apparatus are most suitable such as the Technicon SMA 7/A. After emphasizing the difficulty that the laboratory often encounters in diagnosing a heterozygote condition, the Authors report a thalassemic taint of 7.18% in Alghero, with a prevalence of the beta-thalassemia so called 1st type. They refer to the not rare occurrence of anaemia, in association with sideropenia and thalassemia and confirms the possible disappearance of the erythrocytary thalassemia characteristics when, together with the thalassemia there is a deficiency of G-6-PDH. The study carried out by the Authors does not reveal any proven case of alpha-thalassemia, thus confirming what other research workers have established on the rarity of this thalassemia variant in our zone, but not excluding that this apparent rarity could be attributed to an inadequacy in the present means of research.
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PMID:[Genetic, biochemical, pathogenetic and laboratory aspects of thalassemia. Heterozygote thalassemia in Alghero]. 123 42

A 23-yr-old man of Greek-Italian ancestry with mild anemia was found to be heterozygous for HbD (Punjab) beta121 glu leads to gin and beta-thalassemia. HbA was not detected upon electrophoresis of the subject's hemolysate, and no synthesis of betaA globin was demonstrated after incubation of peripheral blood or bone marrow with 3H-leucine. The thalassemia gene was thus of the betao variety. The betaD/alpha synthesis ratios were almost equally unbalanced in the blood and bone marrow: 0.53 and 0.61, respectively. The mother of the propositus had beta-thalassemia trait. In peripheral blood the betaA/alpha synthesis ratio was 0.38. The mutant betaD gene thus appeared potentially capable of directing the synthesis of globin chains as efficiently as a normal betaA gene. The mildness of the HbD-betao-thalassemia syndrome appeared to be due to the maintenance of a relatively high total beta/alpha synthesis ratio in the presence of a physiologically neutral structural mutation.
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PMID:Globin chain synthesis in HbD (Punjab)-beta-thalassemia. 124 6

A new unstable hemoglobin, Hb Leslie, has been observed in three generations of a Georgia family. The propositus, a 42-yr-old black veteran with hemolytic anemia and splenomegaly, has a hemoglobin variant with an electrophoretic mobility similar to that of hemoglobin F. The variant comprises about 85% of the total hemoglobin and was isolated by chromatography. Chemical analysis has identified the abnormality as a deletion of the glutaminyl residue in position 131 (H9) of the beta-chain. Deletion of this critical residue which participates in the alpha1beta1 contact causes decreased stability of the hemoglobin without significant changes in functional properties or morphologic abnormalities in the erythrocyte. Family studies revealed hemoglobin Leslie occurring in combination with beta0-thalassemia, HbS, and HbC. All persons with the various Hb Leslie combinations, including the propositus, have no clinical manifestations other than anemia. In some the anemia is fully compensated. There is no history of drug-associated hemolysis.
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PMID:Hb Leslie, an unstable hemoglobin due to deletion of glutaminyl residue beta 131 (H9) occurring in association with beta0-thalassemia, HbC, and HbS. 124 15

The electrophoretic behaviour of red cell membrane proteins was studied in thalassaemia major and minor and in sickle-cell anaemia. Protein amino acid composition was also determined following hot hydrolysis of the stromas. Experiments with various solubilisation methods, electrophoresis supports and buffers showed certain changes in these three diseases, accompanied by alterations of the percent ratio of some amino acids.
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PMID:[Erythrocyte changes of membrane proteins in some hemoglobinopathies]. 125 May 31

The clinical, haematological and biochemical findings in a person with delta beta-thalassaemia and Hb-Lepore are described. The patient was a 24-year-old student who suffered from anaemia of intermediate severity with late onset of the clinical manifestations, had minor bone and facial deformities, but had no necessity for regular transfusions. Haemoglobins A and A2 were absent in this individual, and the Hb-Lepore has been identified as Lepore-Baltimore. Heterogeneity of gamma chain of the Hb-F follows the expected pattern. The study provides further evidence that neither beta nor delta chains are synthesized in cis to delta beta-thalassaemia or Hb-Lepore.
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PMID:An individual with Hb-Lepore-Baltimore- delta beta-thalassaemia in a Yugoslavian family. 125 2

S-Homozygotes, SC heterozygotes, and S-beta-thalassaemia heterozygotes are the haemoglobinopathies which make up sickle cell disease. Although their clinical features are similar, as regards complications during pregnancy, Hb S-beta-thalassaemia most dangerous, the main causes of mortality being severe anemia, acute sequestration crisis, bacterial infections, painful episodes, and pulmonary bone marrow fat embolism. Folic acid and antimalarials (where these are indicated) are often successful in preventing severe anaemia. It is best to reserve blood transfusion to replace moderate loss or to correct gross anaemia quickly when this is considered severe enough to threaten life. Painful crises are particularly common towards the end of pregnancy and in treating these episodes, analgesics, antibiotics, and sometimes heparin are used. S-homozygote carries additional hazards. Because of the prevalence of pelvic contraction, fetopelvic disproportion is common and so the incidence of operative deliveries is high. Many fetuses are lost through an increased incidence of abortion and perinatal mortality. In the survivors, there is evidence of intrauterine growth retardation brought about by continuous maternal anaemia throughout pregnancy.
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PMID:Sickle cell disease in pregnancy. 126 39

Hematologic and globin synthesis studies were performed in a black American family in which the genes for alpha-thalassemia and hemoglobins (Hb) S and C were segregating. The following distribution of these abnormalities was found: father, sickle cell trait + alpha-thalassemia; mother, HbC trait + alpha-thalassemia, propositus, HbSC + alpha-thalassemia; older sibling, alpha-thalassemia trait; and younger sibling, hemoglobin H disease. The child with HbSC-alpha-thalassemia demonstrated more severe anemia and a more hemolytic picture than is typical of HbSC disease. Her erythrocytes exhibited decreased osmotic fragility in comparison with HbSC erythrocytes, but had an indistinguishable oxygen equilibrium curve and 2, 3-diphosphoglycerate (2, 3-DPG) level. Erythrocyte sickling in the patient, however, was significantly reduced, with less than 35% sickle forms observed at nearly complete oxygen desaturation. The sibling with hemoglobin H disease exhibited 26% Bart's (gamma4) hemoglobin at birth, a level comparable with that seen in infants with HbH disease in Far Eastern populations. At age 5 months typical findings of mild hemoglobin H disease appeared, with HbH making up 6.5% of the total hemoglobin.
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PMID:Sickle cell syndromes. I. Hemoglobin SC-alpha-thalassemia. 127 38

We have identified 7 patients with Hb H disease as homozygotes for a mutation in the polyadenylation site (AATAAA-->AATAAG) and have compared their hematological data with those of Hb H patients having other types of alpha-thalassemia determinants. All 7 patients exhibited moderate anemia with microcytosis and hypochromia being similar to that observed in the other patients. Relatives with a heterozygosity for this mutation are borderline microcytic and hypochromic without a significant anemia but with a low in vitro alpha/beta chain synthesis ratio. Analyses of the hemoglobin components identified low levels of Hb A2 and Hb H that were comparable to those found in other patients with Hb H disease; the level of the zeta-chain was low (average 0.14%).
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PMID:Hb H disease caused by a homozygosity for the AATAAA-->AATAAG mutation in the polyadenylation site of the alpha 2-globin gene: hematological observations. 128 2

We report a Chinese patient with hemoglobin H (Hb H) disease who developed intrathoracic extramedullary hematopoiesis (EMH) 17 years following splenectomy for a blunt abdominal injury. The patient initially presented with extreme hyperbilirubinemia and multiple intrathoracic tumors. Hb H disease was diagnosed after investigation, and the marked jaundice, which declined gradually after supportive treatment, was attributed to his chronic hemolysis superimposed on an acute hepatitis C virus infection. A biopsy of the intrathoracic tumors revealed an EMH. Intrathoracic EMH, which is usually encountered in patients with beta-thalassemia and hereditary spherocytosis, has never been reported in Hb H disease. In areas where thalassemia is prevalent, EMH should be considered in the differential diagnosis of patients who have chronic anemia with asymptomatic intrathoracic tumor to avoid unnecessary surgical interventions.
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PMID:Intrathoracic extramedullary hematopoietic tumor in hemoglobin H disease. 128 91

Thalassemias and hemoglobinopathies in Thailand have been examined with a blood cell counter based on electroimpedance principle and obtained size distribution curves of red cells and platelets. Among various disorders, beta-thalassemia/hemoglobin E and homozygous hemoglobin Constant Spring showed severe anemia. Their red cell size distribution curve shifted to the left and overlapped with the platelet size distribution curve. Red cell distribution width expressed by coefficient of variation and the degree of the overlapping were stronger in beta-thalassemia/HbE than HbH. Heterozygous beta-thalassemia showed a narrow red cell distribution curve width with small standard deviation and low England's value. Although the overlapping of size distribution curves cause inaccurate red cell count and platelet count, careful observation of the size distribution curves was proved to have high diagnostic value.
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PMID:Size distribution curves of blood cells in thalassemias and hemoglobin H diseases. 129 99


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