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PubMed1990

[Abnormal hemoglobins in a Negroid population in Peru].

A study was performed on 100 blood samples from black people native of the Chincha province and living in Pueblo Nuevo Ica district, in Peru. No haematological abnormalities were seen in any of the cases. Upon haemoglobin electrophoresis, 8 carriers of abnormal haemoglobin were found, the A/S pattern appearing in 5 instances and the A/C pattern in 3. These 8 samples were subjected to deoxyhaemoglobin solubility tests and to differential solubility test with urea, the initial results being confirmed. These data correlate, in general terms with previous findings.

Adolescent↗
PubMed1986

Separation of normal and abnormal hemoglobin chains by reversed-phase high-performance liquid chromatography.

A review is presented of the elution patterns on reversed-phase columns of the normal and abnormal globin chains of different hemoglobin types, including 16 beta-chain variants, 7 alpha-chain variants, 9 gamma-chain variants, and 4 variants with fusion or hybrid chains. Separations appear to be based primarily on differences in hydrophobicity. The method is ideally suited for the detection of abnormal globin chains, their quantitation and their isolation. Semi-quantitative data based on the calculation of the delta/non-alpha ratios allow the detection of beta-thalassemic conditions in situations where the quantitation of hemoglobin A2 by other procedures is impossible or complicated.

Adult↗
PubMed1988

Inclusion body beta-thalassemia trait in a Swiss family is caused by an abnormal hemoglobin (Geneva) with an altered and extended beta chain carboxy-terminus due to a modification in codon beta 114.

We have analyzed the sequence of the beta globin gene of a chromosome that is linked to the occurrence of an inclusion body beta-thalassemia characterized in the heterozygote by moderate anemia, severe red cell abnormalities, splenomegaly, inclusion body formation, elevated Hb A2 levels, and an increased in vitro alpha/beta chain synthetic ratio. The data indicate a change in codon 114 from CTG (Leu) to -GG that resulted in a frameshift and the presumed synthesis of an abnormal beta chain that is 156 residues long with a completely different C-terminal amino acid sequence. The change in codon 114 gives a -GGGCCC- sequence that creates a new ApaI site; the resulting 2.6-kilobase fragment has been observed in all subjects with this thalassemia condition. Protein structural analyses failed to demonstrate any trace of the abnormal beta chain, even in reticulocytes and nucleated red cells that were isolated by density gradient centrifugation. The inclusion bodies appear to contain mainly normal alpha chains. It is assumed that the structure of the beta-Geneva chain prevents it from combining with normal alpha chains; this results in a rapid breakdown of the abnormal protein during the early stages of red cell maturation and an accumulation of free alpha chains.

Adult↗
PubMed1983

alpha Chain and gamma chain abnormal hemoglobins in newborn babies: structural and genetic aspects.

Structural studies and quantitative analyses were conducted on the hemoglobin of 55 newborn babies. Seven alpha chain variants (G-Philadelphia, Montgomery, Inkster, I-Philadelphia, Matsue-Oki, Winnipeg, and O-Indonesia) were present in 26 heterozygous newborns (17 black, eight Caucasian, and one Indonesian). The relative amount of the alpha X containing abnormal Hb F of the Hb G-Philadelphia and Hb Winnipeg babies was less than observed in heterozygous adults, which may indicate a decreased rate of assembly of the alpha X-gamma dimer over that of the alpha X-beta dimer. Of the 29 newborns with gamma chain variants, 16 were Caucasian babies; of these 15 had a Hb A gamma F-Hull heterozygosity and one a Hb G gamma F-Marietta heterozygosity. Six black babies were heterozygous for Hb A gamma F-Texas-I and six for Hb G gamma F-Port Royal. One Japanese baby had a heterozygosity for A gamma F-Iwata and a second was heterozygous for A gamma TF-Yamaguchi. Quantitative analyses of the isolated normal Hb Fo as well as an evaluation of the relative amounts of the Hb Fx in the red cell lysates gave data useful for a speculation of the genetic condition in each of these babies. It was concluded that the babies with the Hbs F-Texas-I, F-Iwata, F-Hull, and F-Marietta were simple heterozygotes with either the G gamma x A gamma/G gamma x A gamma X or the G gamma x A gamma/G gamma X x A gamma genic arrangement. The babies with Hb F-Port Royal had a G gamma x G gamma X/G gamma x A gamma arrangement, which may result from a (to be determined) gene conversion. The newborn baby with Hb F-Yamaguchi has the G gamma x A gamma x/A gamma T-X.-. genic arrangement, suggesting the presence of three distinctly different gamma chain genes of which one, the A gamma T-X gene, produces an A gamma chain (with threonyl at position gamma 75 and an Asn at position gamma 80) at a level usually seen for G gamma rather than A gamma chains. These studies were greatly facilitated by the use of high pressure liquid chromatographic methods.

Amino Acid Sequence↗
PubMed1997

Combinations of beta chain abnormal hemoglobins with each other or with beta-thalassemia determinants with known mutations: influence on phenotype.

Hematological and hemoglobin (Hb) data are presented for numerous patients with compound heterozygosities for different beta chain variants and for a beta chain variant with different beta-thalassemia (beta-thal) alleles. Considerable variations, which result from the type of beta chain variant and beta-thal mutation, can be noted. The comparison again emphasizes the importance of determining the diagnoses at the molecular level to aid the physician in the management of patients with different combinations of abnormalities. Simplification and commercialization of modern technology may make the introduction of this approach in some clinical chemistry laboratories possible.

Adolescent↗
PubMedDate not supplied

[Hemoglobin abnormalities and glucose 6 phosphate dehydrogenase deficiency (G6PD) in 101 refugees from southeast Asia].

Hematological studies were performed systematically in 101 refugees from South-Eastern Asia living in the Grenoble area at the present time. We found: --4 haemoglobin E homozygosity, --29 haemoglobin E heterozygosity, --2 beta-thalassemia heterozygosity, --4 alpha-thalassemia heterozygosity, --14 glucose 6 phosphate dehydrogenase deficiencies.

Asia, Southeastern↗
PubMed1975

[Frequency of hemoglobin abnormalities and hemoglobinopathies in Mozambique peoples (comparison between leprosy and non-leprosy subjects].

In 588 bloodsamples of negride natives from Moçambique, preferably Chuabo and Macua, haemoglobin analyses were performed. In 21 cases an increase of Hb A2 was found, indicating the presence of heterozygous beta-thalassaemia, in one case the changes in Hb-analysis were typical for beta-delta-thalassaemia, 18 samples could be shown to contain Hb S, typical for the heterozygous sickle cell trait. Futhermore in 7 cases Hb A2' was found. In two bloodsamples haemoglobin variants were observed, which according to their electrophoretical mobility were assumed to represent Hb D in one case, and Hb G in the other. In the Chuabo population the frequency of the thalassaemia gene was found to be more than twice as high as in the Macua population. In non-lepers Hb S was observed with a remarkable higher incidence than in lepers.

Hemoglobinopathies↗
PubMed1986

Newborn screening for hemoglobin abnormalities. A comparison of methods.

Peripheral blood from 1,000 newborn infants of black (641) and Southeast Asian (359) ancestry were screened for hemoglobin variants. Results obtained from the combination of cellulose acetate (CAC) and citrate agar (CAG) electrophoresis were compared with isoelectric focusing (IEF) electrophoresis. There was complete agreement between the two methods on assignment of Hb S trait, Hb C trait, Hb E trait, and homozygous Hb E. IEF identified small amounts of Hb A in two newborn infants with Hb S-beta + thalassemia; the CAC and CAG electrophoretic patterns were indistinguishable from sickle cell anemia. One hundred twenty newborn infants with Hb Bart's were detected by IEF; 51 of these were found on CAC. Although IEF was more sensitive in detecting small amounts of hemoglobin, it is not clear if the improvement in detection warrants adopting this form of electrophoresis for routine screening of newborn infants.

Electrophoresis↗