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 C and hereditary persistence of fetal hemoglobin (HPFH) are an uncommon combination of hemoglobinopathies. Several tests are needed to verify this condition, among them hemoglobin electrophoresis and Kleihauer-Betke staining of a peripheral blood smear. Family studies are useful in delineating the genetics of the hemoglobinopathy but could not be performed in our case. In more confusing cases or with an unusual subtype, more extensive testing may be required. HPFH, by itself, is without clinical manifestations. It may be confused with other conditions; therefore, its presence in patients with hematologic symptoms requires more precise definition of the hemoglobin abnormality.
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PMID:Hemoglobin C in association with hereditary persistence of fetal hemoglobin. 243 76

An isoelectricfocusing method has been developed to enable large scale screening of newborn blood for hemoglobinopathies. The method utilizes a thin layer agarose gel containing carrier ampholytes in the pH range 6-8. The gradient is non linear allowing increased resolution in the pH region 6.8-7.8 where most hemoglobin variants are isoelectric. The increased resolution between Hb A and Hb Fac enables screening for beta-thalassemia by densitometric analysis. By calculating the ratio of Hb A/Hb Fac or Hb F/Hb A it is possible to detect newborns heterozygous for beta(+)- or beta(0)-thalassemia. Structural variants, unresolved by other electrophoretic methods, are easily detected. Seventy-two samples can be analyzed on a single gel in 90 minutes. Traces of hemoglobin variants can be detected by a heme-specific stain requiring no destain step.
Hemoglobin 1988
PMID:An isoelectricfocusing method to detect hemoglobin variants in newborn blood samples including the beta-thalassemias. 246 35

A 73 year-old man suffering from marked anemia for several years admitted in our hospital. Diagnosis was immediately made of refractory anemia with ringed sideroblasts by the existence of ringed sideroblasts. Hemoglobin analysis revealed a high fetal hemoglobin, a low hemoglobin A2, a decreased beta/alpha synthetic ratio, and a decreased G gamma/A gamma synthetic ratio. This acquired hemoglobinopathy resembled delta beta-thalassemia. His anemia was remarkably improved because of the responsiveness to anabolic steroid hormone, and this abnormal globin synthetic pattern was identical as those of the normal adult. We consider this hemoglobinopathy may due to an abnormal expression of globin mRNA.
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PMID:[Refractory anemia with ringed sideroblasts complicated with delta beta-thalassemia-like hemoglobinopathy]. 247 63

Three different hemoglobinopathies, i.e. Hb S, Hb Chad [alpha 23 (B4)Glu----Lys], and alpha-thalassemia-2 (-3.7) have been observed in eight members of a family from Surinam. The proposita had all three abnormalities, while her mother and four of her half-brothers had Hb Chad together with an alpha-thalassemia-2 heterozygosity or homozygosity. Gene mapping and dot-blot analysis of amplified DNA identified a G----A mutation in codon 23 of the alpha 2 alpha 1 hybrid gene resulting in the Glu----Lys substitution. The quantity of the alpha-Chad chain averaged 31.5% in its carriers with an additional alpha-thalassemia-2 heterozygosity [-alpha Chad(-3.7 kb)/alpha alpha], and 43% in the two carriers with an additional alpha-thalassemia-2 homozygosity [-alpha Chad (-3.7 kb)/-alpha (3.7 kb)]. These quantities are considerably higher than those reported for families from Chad, China, and Japan; the low levels of 14.5-24% Hb Chad in members of previously reported cases suggest a mutation on a chromosome with two alpha-globin genes [alpha alpha Chad/alpha alpha or alpha Chad alpha/alpha alpha].
Hemoglobin 1989
PMID:Hb Chad or alpha 223(B4)Glu----Lys beta 2 observed in members of a Surinam family in association with alpha-thalassemia-2 and with Hb S. 260 23

DNA samples from numerous subjects of different racial and ethnic backgrounds, with or without various hemoglobinopathies (classical beta-thalassemia; silent beta-thalassemia, Hb E, sickle cell anemia), were studied for a rearrangement (+ATA; -T) at nucleotide -530 in the 5' flanking region of the beta-globin gene using amplified DNA and 32P-labeled synthetic oligonucleotide probes. The data show that this unusual sequence is a common feature among East-Asians and Blacks (particularly SS patients), and is not associated with mild thalassemic features typical for the silent form of beta-thalassemia, as has been suggested (5).
Hemoglobin 1989
PMID:High frequencies of a rearrangement (+ATA; -T) at -530 to the beta-globin gene in different populations indicate the absence of a correlation with a silent beta-thalassemia determinant. 270 62

Hemoglobin D-Punjab (or D-Los Angeles) is a common variant worldwide. It is also the most frequent abnormal hemoglobin in Xinjiang Uygur Autonomous Region of China. A large survey of hemoglobinopathy, including 142,171 people and 21 national/ethnic groups, was carried out in Xinjiang and indicated Hb D-Punjab accounted for 55.6% of the total hemoglobin variants there. Here we describe a simple way--EcoRI mapping of the amplified beta-globin DNA sampling from dried blood spots on filter paper blotters--of identifying the Hb D-Punjab gene. The primers were designed and synthesized to emzymatically amplify a 144-bp fragment of beta-globin gene which included codons beta 121 (GAA) and 122 (TTC) representing an EcoRI recognition site. The Hb D-Punjab gene could be easily detected by EcoRI digestion of the amplified DNA sequence on agarose gel because of a single base change at codon 121. The analysis of amplified DNA sampling from dried blood provides a very useful method for population study of Hb D-Punjab and will be of significance for demonstration of the occurrence of the Hb D-Punjab gene and for understanding of the relations among various nationalities.
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PMID:Identification of Hb D-Punjab gene: application of DNA amplification in the study of abnormal hemoglobins. 272 78

Thalassemias and Hb E are highly prevalent in Thailand. Anemia is also common among the Thai population with an incidence varying between 30-80%, depending upon the area. We now report preliminary results from a population survey, conducted in Phetchaburi between September 1985 and October 1986, to determine the incidence of hemoglobinopathies and anemia.
Hemoglobin 1988
PMID:Prevalence of hemoglobinopathies and anemia in Phetchaburi, Thailand. 320 7

Three plasmids (labeled pUC-2 gamma-beta, pUC-2 beta-delta, and pL-alpha-zeta), each containing two or three different human globin gene fragments (beta IVS-II, inter-gamma, and gamma IVS-II in pUC-2 gamma-beta; 5'-beta, 3'-beta, and delta IVS-II in pUC-2 beta-delta; alpha and zeta in pL-alpha-zeta) have been constructed. The gene fragments could be isolated simultaneously from Eco RI/Bam HI double digests of each of the first two plasmids or from a Pst I digest of the third, using electrophoresis in an 1.0% agarose gel. This facilitates the large-scale isolation of gene fragments for use as probes in studies such as the analysis of polymorphisms or the molecular basis of some hemoglobinopathies.
Hemoglobin 1988
PMID:Construction of three plasmids, each containing two or three different human globin gene fragments. 320 15

The attitudes toward screening and prenatal diagnosis for the hemoglobinopathies Hb E and alpha-thalassemia, prevalent in Southeast Asia, it were studied in Southeast Asians living in Hawaii. Since May 1985, one Laotian and two Filipino Outreach Workers were trained to make home visits to educate and recruit prospective subjects for a federally-funded thalassemia screening project. Volunteers over age 18 were interviewed to assess their comprehension about thalassemia and their attitudes toward screening, family planning, and prenatal diagnosis using structured questionnaires to measure subjective responses. Prenatal diagnosis was explained to all subjects using simple brochures in Laotian and in three Filipino dialects. Culturally oriented genetic counceling was offered to all heterozygotes, emphasizing that their status was common and benign. By July 1987, 597 adult participants had been interviewed; 262 were male, 335 female (65 pregnant); 250 were Laotian, 221 Filipino, 90 Chinese, and 36 of other races. Among female interviewees, 268 said they would want prenatal diagnosis and 196 said they would abort an affected fetus. Most interviewees, especially those who were pregnant, were in favor of: 1) public education about screening, 2) having relatives tested, and 3) prenatal diagnosis when indicated. These attitudes seemed to be influenced by Western culture and religious constraints. Comprehension of genetic concepts correlated closely with education. Ten pregnancies occurred in 16 couples where both partners were heterozygous for a thalassemia (thal) (at least two non-referred couples had homozygous alpha-thal-1 fetuses during this time). Five had amniocentesis for risk of alpha-thal homozygosity, two for risk of beta-thal homozygosity, two miscarried, and one was referred too late for fetal testing. After amniocentesis, one couple declined termination for a fetus with Hb E/beta-thal, and was sceptical of the results when their infant seemed normal at birth; one couple kept a homozygous beta-thal fetus, possibly modified by alpha-gene deletions.
Hemoglobin 1988
PMID:Thalassemia heterozygotes in Hawaii: ethnic attitudes toward screening and prenatal diagnosis. 320 17

Hemoglobin-CC is a relatively uncommon hemoglobinopathy, seen primarily in the black population. These patients usually have a mild clinical course, without significant risk of vasoocclusive crises. There are no routine recommendations for preparation prior to surgery. We present a patient who developed a clinical picture suggestive of major vasoocclusion after cardiac by-pass surgery. In retrospect, these signs appear to be the result of hemodynamic instability and cardiogenic shock instead of vasoocclusion.
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PMID:Vasoocclusion with homozygous hemoglobin-C disease. 323 10


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