Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three new cases of Hb 0 Arab in two families are reported from districts of Bulgaria, where a carrier state of this abnormal hemoglobin has not been established so far. One of the propositi is a double heterozygote for Hb 0 Ar/beta(0)-thalassemia. His father is a simple heterozygote for Hb 0 Ar with clear-cut cytomorphological stigmata, indicating hemoglobinosis. The second propositus, according to clinical and laboratory data is also a double heterozygote for Hb 0 Ar and beta(0)-thalassemia. The carriers investigated are of Bulgarian nationality. Their territorial origin supportsthe thesis that the gene mutation for Hb 0 Arab most probably has taken place out of the present boundaries of Bulgaria.
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PMID:Three cases of hemoglobin O Arab. 6 91

Mass screening in the Geok-chai region of Azerbaijan covered 264 persons. 2 families with abnormal hemoglbin were detected. Electrophoresis in PAG and on cellulose acetate films as well as sickling test showed that in 3 out of 9 members of one of the families HbS was detected. 6 out of 8 members of the others family appeared to be HbD-carriers. In 4 members of this family abnormal hemoglobin was found out in combination with G-6-PDH deficiency. No clinical manifestations were found. A number of beta-thalassemia cases were detected in screened children as well as in adults. Hemoglobin oxygen equilibrium curves were studied in patients with heterozygous beta-thalassemia. In case of G-6-PDH deficiency when it is not possible to obtain active enzyme zones on the columns with PAG these zones can be detected when CoCl2 (2 mM) is added into the incubation medium.
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PMID:Hemoglobinopathies and glucose-6-phosphate dehydrogenase deficiency in one of the regions of Azerbaijan: mass screening and laboratory investigations. 14 87

Hb J Calabria is a fast moving hemoglobin variant which was found in an Italian family by Vecchio et al (1), and in a French family by Blouquit et al. who studied its functional properties (2). The original family described by Vecchio et al. in which both Hb J Calabria and beta-thalassemia were present has been reexamined and is the subject of the present study. Hematological and clinical features of the carriers are described. The heterozygous carriers of Hb J Calabria showed only mild variable subclinical anemia and levels of the abnormal hemoglobin ranging from about 33 to 42%. The Hb J Calabria/beta-thalassemia double heterozygote showed a moderate chronic hemolytic anemia with alterations of the RBC indices and morphology in addition to splenomegaly. The relationship between structural abnormality, functional properties and clinical expression of Hb J Calabria is discussed.
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PMID:Studies on a family with Hb J Calabria (alpha 2 beta 2 64 (E8) Gly replaced by Asp). 50 Mar 75

Silent carrier alpha-thalassemia was identified in two individuals, one with sickle-cell trait and the other hemoglobin (Hb) C trait. Both are parents of a child with characteristic hematologic features of the Hb SC-alpha thalassemia syndrome, including microcytosis and an unbalanced pattern of globin synthesis. In contrast to the typical findings that accompany heterozygous Hb S or Hb C with concomitant alpha-thalassemia trait, neither of the parents had microcytosis nor a percent of the abnormal hemoglobin in their erythrocytes that was below the normal range. In both, however, globin synthesis of peripheral blood reticulocytes was unbalanced, consistent with mild alpha-thalassemia. These findings suggest that the alpha-thalassemia silent carrier may be hematologically indistinguishable from the nonthalassemic individual, even when hemoglobin S or C are present.
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PMID:Sickle cell syndromes. III. Silent-carrier alpha-thalassemia in combination with hemoglobin S and hemoglobin C. 50 35

The first case of Hb Leiden (alpha2beta2 6 or 7 Glu---O)-beta (0) thalassemia in a young patient with chronic severe hemolytic anemia, which improved after splenectomy, is described. His parents were Chinese. The patient's blood showed no Hb A or normal beta chains when no blood transfusion was given. His mother was heterozygous for beta(0) thalassemia, and his father and brother had a trait for the unstable Hb Leiden. The Hb Leiden level of the father was 22.6% and that of the brother was 19.3%. It is probable that the abnormal hemoglobin in this Chinese family resulted from an independent gene mutation, unrelated to the one found in 2 Caucasian families reported earlier.
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PMID:Hb Leiden-beta (0) thalassemia in a Chinese with severe hemolytic anemia. 60 24

A regional laboratory for the diagnosis and investigation of hemoglobinopathies was established by the Hamilton District Program in Laboratory Medicine in October 1970. Specimens from patients suspected of having a hemoglobinopathy were referred to the regional laboratory from all the hospitals participating in the program. Between October 1970 and October 1974, 3547 specimens were screened for an abnormal hemoglobin and thalassemia; 758 cases of thalassemia, 165 cases of abnormal hemoglobin and 14 mixed cases were diagnosed. Before 1970, 110 cases of thalassemia and 12 cases of abnormal hemoglobin were on record in the Hamilton region. Regionalization of laboratory services provides a more effective means of screening for abnormalities in hemoglobin structure and synthesis and facilitates the opportunity for improving diagnostic procedures.
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PMID:Hemoglobinopathies in the Hamilton region. I. A 4-year survey. 80 45

Hematological and biochemical findings in a family with hemoglobin (Hb) Beograd interacting with beta-thalassemia are presented. Hb Beograd (alpha2beta2 121 Gul leads to Val) was found in 3 members. In two members it interacted with beta-thalassemia. These two double heterozygotes had anemia of intermediate severity and splenomegaly. Studies with 51Cr and 59Fe showed a shortened life span of red cells and ineffective erythropoiesis. The abnormal Hb amounted to 86-87%, and Hb F to 5-7%. No Hb A was present. One subject of the family was heterozygous for Hb Beograd. He showed normal clinical and hematological findings. The abnormal hemoglobin was 38%. Four members of the family were heterozygotes for beta-thalassemia. The interaction between beta-thalassemia and beta-chain variants is discussed.
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PMID:Hemoglobin Beograd (alpha2beta2 121 Glu leads to Val) interacting with beta-thalassemia. 80 62

Hemoglobin J Mexico has been found in five generations of a large Algerian family. Nine subjects have 55% Hb J although their parents, siblings and offspring may have 31%, the usual quantity found in heterozygotes. Those with 55% Hb J are considered to be homozygous for a chromosome carrying both a normal alpha chain locus and a locus for alphaJ. The proportion of the abnormal hemoglobin in all the subjects is in favor of an unequal expression of both loci, the amount of protein synthesis directed by the alpha J gene being greater than that directed by the alpha A. In two heterozygotes a slightly higher proportion of the Hb J (38%) suggests the presence of a single normal alpha chain locus in trans. An associated alpha-thalassemia was excluded by biosynthetic studies in this family.
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PMID:Homozygous cases for hemoglobin J Mexico (alpha54 (E3)Gln replaced by Glu) evidence for a duplicated alpha gene with unequal expression. 105 68

This report summarizes the results of a search for abnormal hemoglobin variants by use of a filter paper electrophoresis technique on 228,300 blood samples obtained from various parts of four Canadian provinces. Abnormal variants were found in 438 samples and were of 27 different varieties, including six new ones. In addition, the characteristics of beta-thalassemia were found in 147 samples. The types of variant found, and their geographical and ethnic origin are presented.
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PMID:The human hemoglobin variants in Canada. 120 25

In recent years, there were found in China 2 kinds of hemoglobin-M (Hb M Shanghai-1, Hb M Shanghai-2) and 2 kinds of unstable hemoglobin (Hb Shanghai-1, Hb Shanghai-2), amoung which the propositus of Hb Shanghai-2 proved to be a heterozygote for both unstable hemoglobin gene and beta-thalassaemia gene. This article gives an account of the biochemical analysis and genetic studies of these four kinds of abnormal homoglobins. Besides, we present here also the records of 2 family pedigrees of alpha-thalassaemia, and found in the blood of a patient a small quantity of another abnormal hemoglobin constituent in addition to Bart's hemoglobin and hemoglobin H. On these bases, a new hypothesis concerning the heredity of alpha-thalassaemia disease is proposed.
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PMID:A study on the biochemical genetics of abnormal hemoglobins. 120 35


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