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

This report deals with a large German family in which 12 carriers of the trait had the characteristic hematologic abnormalities of thalassemia minor. Among these are increased red cell count, decreased hemoglobin content, microcytosis and marked hypochromia in the presence of normal or increased serum iron levels. Thalassemia should always be considered if these hematologic abnormalities are found. It probably occurs more often in central Europe than thought of hitherto.
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PMID:[Heterozygous beta-thalassemia in a large German family]. 55 16

Eighty-five cases of beta-thalassemia minor were found between January 1975 and November 1977 in 18 families of French-speaking Quebeckers without Mediterranean ancestry. Most of the families had settled in Quebec more than 200 years ago, largely in Portneuf county. This is the first report of such a number of cases of beta-thalassemia in this population. Thus, beta-thalassemia minor is a relatively common condition in Quebec and must be considered in cases of microcytic anemia without evidence of iron deficiency. The hematologic findings were similar to those reported in the past in other populations. Two cases of delta beta-thalassemia minor (in sisters) are also reported; this is the first report of such cases in French Canadians.
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PMID:[Thalassemia in French-speaking Quebec residents]. 70 70

Three siblings of a Kurdish Jewish family with clinical and hematologic findings compatible with congenital dyserythropoietic anemia (CDA) are described. All patients presented with mild anemia, marked hyperbilirubinemia and splenomegaly. The bone marrow morphology and ultrastructure of the normoblasts was typical of CDA type II and there was strong agglutination of the patients' red blood cells by anti-i serum. These patients displayed two features that were not characteristic of CDA type II, namely, the acidified serum lysis test was negative on more than 10 occasions, and high levels of Hb A2 were observed in two siblings. In one of the siblings, abnormal globin-chain synthesis was found and alpha-chain production exceeded beta-chain production, as in beta-thalassemia minor. In the light of the above findings, our patients are perhaps best classified as having aberrant CDA with features of thalassemia.
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PMID:Aberrant congenital dyserythropoietic anemia with negative acidified serum tests and features of thalassemia in a Kurdish family. 75 May 40

A 6-year follow-up of a Greek girl with pycnodysostosis associated with heterozygous beta-thalassemia is reported. Active rickets in infancy was superimposed on pycnodysostosis. In the family the autosomal recessive disease, pycnodysostosis, appeared in two of three siblings in combination with the autosomal dominant disease, thalassemia minor.
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PMID:Pycnodysostosis with Heterozygous beta-thalassemia. 84 66

The clinical hematologic change in 2 groups of progeny from mice carrying radiation-induced strain SEC alpha-chain deficiencies was found to be similar to the hematologic alterations in persons with alpha-thalassemia. The heterozygous deletion or inactivation of the alpha-chain gene in mice caused an anemia similar to alpha-thalassemina minor in persons. The alpha-chain deficiency in mice created an erythrocytosis, reticulocytosis, and microcytic, hypochromic anemia comparable with the changes in human alpha-thalassemia minor resulting from deletion of the alpha-chain gene. These mouse mutants are the only known animal models of human thalassemia. A comparison of hematologic values obtained from progeny possessing an alpha-chain gene deficiency and from progeny possessing a beta-chain duplication suggested that the deficiency of alpha-chain synthesis, rather than a simple imbalance between the amounts of alpha- and beta-chains produced, was primarily responsible for the altered hematologic characteristics in these alpha-thalassemic mice.
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PMID:Radiation-induced alpha-thalassemia in mice. 87 56

The absolute hemoglobin A2 concentration in mg. per 100 ml. of blood was calculated from the hemoglobin level in Gm. per 100 ml. and hemoglobin A2 percentage for 38 patients with documented iron deficiency, 37 patients with proven beta-thalassemia minor, 26 patients with simple chronic anemia and 40 normal control laboratory workers. The mean hemoglobin A2 concentration (mg. per 100 ml.) in the control group was 459 plus or minus 60 (2 S.D.) and that in the beta-thalassemia group, 766 plus or minus 99. However, in the iron deficiency group it was 229 plus or minus 58, while in the simple chronic anemia group it was 315 plus or minus 39. The mean corpuscular volume (M.C.V.) in cu. mu was 90 plus or minus 8 (2 S.D.) in the normal controls, 68 plus or minus 10 in beta-thalassemia, 69 plus or minus 9 in iron deficiency, and 90 plus or minus 15 in secondary anemia. It is proposed that the absolute hemoglobin A2 level in mg. per 100 ml. of blood taken in conjunction with the M.C.V. is of value in establishing the diagnosis of iron deficiency.
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PMID:Hemoglobin A2 level. A proposed test for confirming the diagnosis of iron deficiency. 111 45

Thalassaemia minor has been diagnosed in 12 members of two Norwegian families. Haematological data from 23 family members are reported. The diagnosis was based on estimation of Hb A(2) by polyacrylamide gel disc electrophoresis. All patients having high Hb A(2) levels had confirmatory evidence of thalassaemia minor (hypochromic anaemia, marked variation in size and shape of the red cells, target cells, basophilic stippling, decreased osmotic fragility, normal or high serum iron level). The majority of the patients had previously been treated with iron without effect.
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PMID:Thalassaemia minor. Twelve patients in two Norwegian families. 112 58

We report microchromatographic measurement of fetal hemoglobin (HbF) proportions in a 36-year-old African-American multigravida woman. At 34 weeks she delivered a 630-g male infant who subsequently did well. Hemoglobin electrophoresis of the hemolysate revealed nearly 100% HbF without HbA, an extremely unusual naturally occurring sample. Family studies revealed a combination of hereditary persistence of fetal hemoglobin (HPFH) and beta zero-thalassemia minor. Southern blot technique confirmed heterozygous alpha 2 thalassemia and HPFH but failed to identify the beta thalassemic lesion. The absence of HbA and the very high amounts of HbF led us to measure HbF by several methods to confirm the accuracy of microchromatography of HbF at values approaching 100%. HPLC revealed a 14% F1 suggestive of microchromatographic underestimation due to glycated HbF. We conclude that cation-exchange microchromatography and the Betke method of alkali denaturation underestimate HbF values as they approach 100% and do not recommend these procedures in this rare situation.
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PMID:Failure of microchromatographic measurement of fetal hemoglobin in beta zero thalassemia-hereditary persistence of fetal hemoglobin. 138 20

Thalassemic syndromes are produced by a quantitative defect in the synthesis of globin chains of hemoglobin. They are classified according to the severity of the clinical picture and to the type of globin chain that is affected. Physiopathology, clinical picture, and treatment of thalassemias are discussed in this work. Thalassemia minor does not create, in general, anesthetic problems. In cases of thalassemia major one should consider not only problems derived from the severity of the anemia it self, but also those related to transfusional therapy, and to bony malformations that may disturb tracheal intubation. Discussion on the management of homozygotic thalassemia during the pre, per, and postoperative phase completes this revision.
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PMID:[Thalassemic syndromes and anesthesia]. 141 Jul 32

The polymerase chain reaction and oligonucleotide probe hybridization technique were applied to the detection of two common mutations of the beta-globin gene found in Chinese, namely the 4-base pair deletion at the 41-42 codons and the C to T substitution at nucleotide 654 of IVS-2. The accuracy of the method was established using beta-thalassemia cases with known mutations or haplotypes of the restriction fragment length polymorphism (RFLP). A further 11 cases of thalassemia intermediate and thalassemia minor were then analysed with the same approach. Our results showed that 5 of the 11 cases carried the TCTT-deletion at codons 41-42. Our method is economical both in terms of materials and time needed and in an alternative to the use of the molecular RFLP approach in the prenatal diagnosis of beta-thalassemia.
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PMID:Detection of beta-globin gene mutations by polymerase chain reaction. 168 65


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