Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hemoglobin SD-Los Angeles is an uncommon sickle hemoglobinopathy. We describe a boy with documented Hb SD-Los Angeles who had experienced acute splenic sequestration, pneumococcal sepsis, aplastic crisis and functional asplenia during his first two years of life. We suggest that children with Hb SD-Los Angeles are at similar risks for the life-threatening complications which characterize sickle cell anemia and should receive the same comprehensive medical care currently recommended for children with Hb SS disease.
Hemoglobin 1984
PMID:Life-threatening complications in a child with hemoglobin SD-Los Angeles disease. 654 33

A survey of the various hemoglobinopathies in Israel is reported. The information was supplied from 13 hematology services throughout the country and from the Ministry of Health. The common hemoglobinopathies encountered were the thalassemias and sickle cell anemia. In addition, hemoglobin C and O Arab were found in isolated communities. Sporadic cases of hemoglobin Hasharon, hemoglobin D, hemoglobin NYU were also found. The thalassemic patients originated mainly from Kurdistan, Yemen and Iraq, while the sickle cell patients were mainly Moslem Arabs or Bedouins.
Hemoglobin 1983
PMID:Hemoglobinopathies in Israel. 662 31

Hematologic evaluations of 254 Southeast Asian refugee children from 163 families are reported. Hemoglobin E trait was common in Cambodians (19%) and Laotians (18%), but rare in Vietnamese (1%). beta-Thalassemia trait was most prevalent in Vietnamese (8%), and less common in Cambodians and Laotians (3%). alpha-Thalassemia was prevalent in all three groups. Hemoglobin concentrations and mean corpuscular volumes seen with hemoglobinopathies were compared with those of Southeast Asian children with normal hemoglobin. Both Hb AE and Hb EE were shown to be benign conditions resulting in microcytosis and mild, if any, anemia. In children with Hb AE, mean corpuscular volume ranged from 64 to 78 ft and Hb E from 27% to 34%. In those with Hb EE, microcytosis was more marked (50 to 63 ft). In 15 children with Hb EE, there was a delayed fall in fetal hemoglobin, which can cause diagnostic difficulties in infants.
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PMID:Anemia and hemoglobinopathies in Southeast Asian refugee children. 684 23

We describe a rapid procedure for constructing cloned human genomic libraries from small amounts of peripheral blood. High molecular weight DNA is isolated from 5-20 ml peripheral blood, partially cleaved with Eco R1, and 8-22 kb fragments are cloned using bacteriophage Charon 4A and suitable E. coli host. Using the approach we have isolated and characterized several non-alpha globin clones from a Kurdish Jew with homozygous beta thalassemia. The ability to isolate suitable amounts of high molecular weight DNA from peripheral blood provides a relatively simple means of constructing human gene libraries representing a variety of hemoglobin disorders.
Hemoglobin 1982
PMID:Construction of human gene libraries from small amounts of peripheral blood: analysis of beta-like globin genes. 706 33

We have investigated the use of anion exchange high performance liquid chromatography (HPLC) for hemoglobin analysis. Several gradient elution programs were developed for optimal separation of hemoglobins in hemolysates derived from newborns and from individuals with hemoglobin disorders. The high resolution achieved, coupled with the ability to carry out chromatographic analysis in an unattended mode including automatic quantitation of the separated hemoglobins indicate that this technique could be quite useful in meeting the need for efficient and accurate diagnosis of hemoglobin disorders.
Hemoglobin 1981
PMID:Separation of human hemoglobins by ion exchange high performance liquid chromatography. 721 16

When hemolytic anemia is diagnosed the etiology of most cases can be determined by simple methods: familial and personal history, physical examination and search for erythrocyte morphologic anomalies (spontaneous or induced). These latter are often typical of a particular mechanism of hemolysis. The antihuman globulin test and the screening test for G-6-PD deficiency and sickle cell anemia are included in the routine tests. More specialized tests should be performed only in doubtful cases. For example, the determination of erythrocyte survival by an isotopic method may confirm suspected mild hemolysis. Measurement of several enzyme activities may detect an enzymatic deficiency. Hemoglobin electrophoresis may reveal hemoglobinopathy.
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PMID:[Etiology of hemolytic anemia]. 728 Jun 29

A survey of hemoglobinopathies which was carried out in the Takamatsu district during the period from January to August 1979 detected six families with abnormal hemoglobins. Approximately 6010 inhabitants were screened. Three of these families had the same new Hb variant (Hb Takamatsu beta 120 Lys leads to Gln) that has not been previously reported. Existence of a blood relationship among these three families could not be established even after careful family studies. This abnormal hemoglobin was not associated with adverse symptoms and gave normal hematologic findings in the carriers. The isopropranol test was negative, oxygen affinity was within the normal range, and biosynthetic ratio in reticulocytes was around 1.0. One of the difficulties in the structural analysis of this hemoglobin was related to complete superposition of abnormal beta XT-12b,13 on a beta T-8,9 peptide in the fingerprint of the trypsin digest of aminoethylated aberrant beta X chain. This was overcome by collection of abnormal tryptic beta core (beta XT-10-13) from unmodified beta X chain, and subsequent digestion by chymotrypsin. Edman analysis of the chymotryptic peptides thus obtained successfully confirmed the substitution to be beta 120 Lys leads to Gln.
Hemoglobin 1980
PMID:Hemoglobin takamatsu (beta 120 (GH 3) Lys leads to Gln): a new abnormal hemoglobin detected in three unrelated families in the takamatsu area of shikoku. 739 Aug 62

A young American woman of Thai ancestry living in Ohio and a man of Vietnamese origin living in Iowa are believed to be the first recognized hemoglobin E homozygotes residing in the western hemisphere. Both were clinically well and exhibited neither pallor nor icterus nor splenomegaly. Their blood exhibited marked microcytosis and mild erythrocytosis. Hemoglobin was 99% E and 1% F, 97% E and 3% F, respectively. These features were similar to those previously reported from Southeast Asia and Madagascar in the few well-documented reports of homozygous hemoglobin E. A 51Cr erythrocyte survival study indicated a normal t1/2 of 28 days. Also demonstrated were minimal decrease in whole blood O2 affinity and increased ratio of alpha/non-alpha globin chain synthesis. Mild hemolytic anemia is not, as usually stated, a feature of this condition, which closely mimics a very mild thalassemia minor. Anemia, when found with high proportions of hemoglobin E, should not be attributed to the homozygous hemoglobinopathy. Persons with homozygous hemoglobin E should be reassured as to its benign implications.
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PMID:Homozygous hemoglobin E mimics beta-thalassemia minor without anemia or hemolysis: hematologic, functional, and biosynthetic studies of first North American cases. 739 58

A survey of nearly 250,000 citizens of Georgia and South Carolina conducted during the past twenty years has led to the detection of over 40 abnormal hemoglobins and several additional hemoglobinopathies. The presence of some of these hemoglobin abnormalities cause (severe) clinical symptoms but others remain undetected unless a specific search is initiated. The incidence of Hb S varies slightly among the populations of different areas, and appears to be the highest in the coastal counties of Georgia and South Carolina. A survey of over 17,000 persons of mainly high school and college age has shown that a significant number of cases with clinically significant hemoglobinopathies will remain undetected unless such surveys are actively promoted.
Hemoglobin 1980
PMID:Hemoglobinopathies observed in the population of the Southeastern United States (SE-USA). 741 28

Hemolysates from 100,000 people who visited the Kyushu University Hospital and affiliated hospitals during the past 15 years were screened for hemoglobinopathies using electrophoresis on thin-layer starch gel; those exhibiting an abnormality were characterized further on clinical, biochemical, and genetic grounds. Of about 97,000 adult and 3,140 cord blood samples, 29 contained electrophoretically detectable abnormalities in the heterozygous condition. Another 17 samples had quantitative changes in the levels of the minor hemoglobin components. Of the thalassemic conditions, 12 involved beta-thalassemia, 3 alpha-thalassemia, 1 delta beta-thalassemia, and 1 delta-thalassemia. Among 45 carriers of beta-thalassemia from 12 families, 5 were noted to have thalassemia intermedia since they exhibited much more severe hemolytic syndromes than those with typical beta-thalassemia minor. The frequency with which we could detect a structural variant of Hb A in the adults by electrophoresis was one in 3,800 samples. About one in 8,000 carried a beta-thalassemia gene.
Hemoglobin 1980
PMID:Frequency and distribution of structural variants of hemoglobin and thalassemic states in Western Japan. 741 30


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