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

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.
 ...
PMID:[Refractory anemia with ringed sideroblasts complicated with delta beta-thalassemia-like hemoglobinopathy]. 247 63

A new type of alpha-thalassemia-1 was characterized in one Spanish patient with Hb H disease and in her mother. The restriction map of this deletion suggests that the deletion of 22 kb has occurred on a chromosome carrying a zeta-globin triplication. The resulting chromosome lacks the alpha 2- and alpha 1-globin genes, the psi alpha 2- and psi alpha 1-globin genes, and one of the three zeta-globin genes, while the other two zeta-globin genes and the theta 1-globin gene have been retained.
Hemoglobin 1989
PMID:Characterization of a new alpha-thalassemia-1 deletion in a Spanish family. 254 42

Globin chain synthesis and alpha/beta ratios were determined in a number of normal subjects, alpha-thalassemia-2 homozygotes, and beta-thalassemia trait using three different techniques. Cation exchange high performance liquid chromatography on a Pharmacia Mono-S, HR 5/5 and reversed phase high performance liquid chromatography on a semi-preparative Vydac C4 column were compared with the traditional carboxymethylcellulose chromatography. Both high performance liquid chromatography columns give excellent results when 2 mg of hemoglobin was chromatographed in each analysis. By modifying the protocols for column equilibration and gradient shape for preparative Vydac C4 columns, conditions were found yielding excellent resolutions of the labeled globin chains in less than an hour without the need for substantial increase of the flowrate. This method was found to be superior to other methods and may be a suitable alternative for the classical carboxymethylcellulose chromatography. Up to five specimens could easily be analyzed in a single day with this system.
Hemoglobin 1989
PMID:Rapid HPLC techniques for globin chain synthesis studies. 259 82

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

beta-Thalassemia is a common disease in Southern China and 10 different mutations or frameshifts are responsible for most types of beta-thalassemia in this area. We studied 126 chromosomes of 80 beta-thalassemia patients from the Guangxi, Guangdong, and Sichuan Provinces using the polymerase chain reaction followed by dot-blot hybridization with specific oligonucleotide probes. The most common mutation in the three provinces is the frameshift at codons 41-42, followed by the A----T mutation at codon 17. The A----G mutation at nt -29 of the promoter is common in Sichuan but not in the other two provinces. Three mutations (T----C at nt -30; G----T at IVS-I-1, and G----C at IVS-I-5) were not observed. These data were used to initiate a prenatal diagnosis program using the same techniques for identification. Eleven fetuses at risk for beta-thalassemia have been diagnosed.
Hemoglobin 1989
PMID:Studies of beta-thalassemia mutations in families living in three provinces in southern China. 260 26

Sequence analysis and dot-blot hybridization of DNA from a Greek patient with a transfusion dependent thalassemia revealed the combination of a beta IVS-I-1 G----A mutation (beta(0) -thalassemia) and a hitherto undescribed frameshift mutation; the latter concerns the absence of a CT dinucleotide from codon 5 and results in a termination signal at the new codon 21 (also a beta (0)-thalassemia).
Hemoglobin 1989
PMID:Frameshift codon 5 [Fsc-5 (-CT)] thalassemia; a novel mutation detected in a Greek patient. 260 27

The purpose of the present study was to investigate the effect of alpha-thalassemia on the prevalence of avascular necrosis in 52 adult patients with sickle cell anemia. alpha-Globin genotypes were determined by restriction endonuclease mapping of genomic DNA extracted from peripheral blood leukocytes. Radiographs of humeral and femoral heads were interpreted by two radiologists who were not aware of the clinical picture and the genotype of the patients in the study. We present data showing that there is a significant positive correlation between alpha-gene deletion and the prevalence and extent of avascular necrosis in our patient population.
Hemoglobin 1989
PMID:The prevalence of avascular necrosis in sickle cell anemia: correlation with alpha-thalassemia. 263 66

Characterization of beta-thalassemia mutations were attempted for 29 Japanese families clinically diagnosed as having beta-thalassemia. Following the identification of a mutation by cloning and sequencing, all families were screened for this particular mutation, using biotinylated allele-specific oligonucleotide probes. Seven different mutations were detected in 17 families: Six families had the frameshift mutation at codons 41/42, resulting from a 4 nucleotide deletion (TTCTTT----TT); four had the deletion at codons 127/128 (CAGGCT----CCT); and three had the TATA box mutation at nucleotide -31 (A----G). Four additional families had mutations at codon 24 (GGT----GGA), codon 26 (GAG----AAG), IVS-II-654 (C----T) and codon 110 (GTG----CCG), respectively. The newly discovered deletion mutation at codons 127/128, and mutations at nucleotide -31, and at codon 110 are peculiar to Japanese, and have not been found in any other ethnic group. The haplotypes of the beta-globin gene cluster were also determined. Some of the haplotypes and beta-thalassemia mutations are identical to those reported in the Chinese population. However, it is noteworthy that nearly half of the beta-thalassemia mutations were unique to Japanese.
Hemoglobin 1989
PMID:Characterization of beta-thalassemia mutations among the Japanese. 263 67

Details are presented of analyses of hemoglobins in blood samples from four newborn babies with hydrops fetalis using reversed phase and anion exchange high performance liquid chromatographic methodology. Three were homozygous for the alpha-thalassemia-1 (SEA) deletion, and one was a compound heterozygote for the same deletion and the larger alpha-thalassemia-1 (Fil) deletion. All four babies had beta, G gamma, A gamma, and zeta chains; these chains were present in Hb Bart's or gamma 4, Hb Portland-I (zeta 2 gamma 2), and Hb Portland-II (zeta 2 beta 2). Hb H (beta 4) could not be detected. The level of zeta was directly related to the level of beta and, thus, the fetal age. A lower level of zeta chain was present in the baby with the compound heterozygosity because the large deletion (Fil) on one chromosome included the zeta and psi zeta genes. Circulating red cells, i.e. reticulocytes and nucleated red cells, were unable to synthesize zeta chains, indicating that this capability must have ceased a few months prior to birth. Quantitative data obtained by chromatographic procedures were greatly influenced by the condition of the blood sample and the way it was stored. Hb Portland-II (zeta 2 beta 2) and Hb Bart's (gamma 4) are rather unstable when a red cell lysate is stored at 4 degrees C; this is in contrast to Hb Portland-I (zeta 2 gamma 2) which appears to be stable. Samples can be stored as washed red cells or red cell lysates at -70 degrees C.
Hemoglobin 1989
PMID:The types of hemoglobins and globin chains in hydrops fetalis. 263 68

A total of 746 schoolchildren of both sex (aged 7-15) were investigated in the community of Backa Palanka and Bac with the view to establishing reference hematologic values of the red lineage: Hemoglobin (Hgb) 135.3 +/- 20.4 g/l, erythrocytes (Er) 4.42 +/- 0.60 x 10(12)/L, hematocrit (HTC) 0.41 +/- 0.06, MCH: 30.5 +/- 2.7 pg, MCHC: 32.8 +/- 3.2 g/l, MCV: 93.2 +/- 5.4 fl. In only 7.3% of children hemoglobin values were below 114.8 g/l (1.5 SD) so that anemia did not represent a socio-medical problem in children aged 7-15 in the area investigated. With regard to the investigation of inherited abnormalities in the synthesis and structure of hemoglobin five children showed a persisting synthesis of fetal hemoglobin with the mildly augmented HbF values: 2.7%, 3.8%, 3.9%, 4.2% and 4.8% while the increase in HbA2 with the values for heterozygotic forms of thalassemia was found in four children thus accounting for 3.3%, 3.5%, 3.5% and 4.3%. It was concluded that although genetically induced anemias were rare they were nevertheless present in this region. They necessitated further epidemiologic studies which had been performed in the greater part of Yugoslavia but not in SAP of Vojvodina nor in the new location of SAP of Vojvodina.
 ...
PMID:[Epidemiologic study of anemia in school children with special emphasis on hemoglobinopathies]. 264 97


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>