scholarly journals The effect of alpha-thalassemia on the expression of the beta- thalassemia/HPFH heterozygote in a black family

Blood ◽  
1981 ◽  
Vol 57 (6) ◽  
pp. 1132-1134 ◽  
Author(s):  
E Beutler ◽  
E Turner ◽  
W Kuhl
Keyword(s):  
Black Family ◽  
Clinical Manifestations ◽  
Fetal Hemoglobin ◽  
Pedigree Analysis ◽  
Red Cells ◽  
Beta Thalassemia ◽  
Hemoglobin Gene ◽  
Alpha Thalassemia ◽  
Alpha Globin ◽  
Hereditary Persistence

Abstract A 2-yr-old black girl presented with a thalassemic clinical picture and was found to have nearly 100% fetal hemoglobin in her red cells. Pedigree analysis indicated that she was a heterozygote for the hereditary persistence of fetal hemoglobin gene and for a beta O- thalassemia gene. A brother, who also had nearly 100% fetal hemoglobin in his red cells, manifested, in contrast to his sister, no anemia and only minimal splenomegaly. Examination of the family's alpha-globin loci using the restriction endonuclease Eco Rl demonstrated that the brother had a single alpha-locus deletion that he had inherited from his mother. The mild clinical manifestations of this boy are consistent with the often expressed view that excess alpha chains may contribute significantly to the hematologic manifestation of beta-thalassemia.

scholarly journals The effect of alpha-thalassemia on the expression of the beta- thalassemia/HPFH heterozygote in a black family

Blood ◽  
1981 ◽  
Vol 57 (6) ◽  
pp. 1132-1134
Author(s):  
E Beutler ◽  
E Turner ◽  
W Kuhl
Keyword(s):  
Black Family ◽  
Clinical Manifestations ◽  
Fetal Hemoglobin ◽  
Pedigree Analysis ◽  
Red Cells ◽  
Beta Thalassemia ◽  
Hemoglobin Gene ◽  
Alpha Thalassemia ◽  
Alpha Globin ◽  
Hereditary Persistence

A 2-yr-old black girl presented with a thalassemic clinical picture and was found to have nearly 100% fetal hemoglobin in her red cells. Pedigree analysis indicated that she was a heterozygote for the hereditary persistence of fetal hemoglobin gene and for a beta O- thalassemia gene. A brother, who also had nearly 100% fetal hemoglobin in his red cells, manifested, in contrast to his sister, no anemia and only minimal splenomegaly. Examination of the family's alpha-globin loci using the restriction endonuclease Eco Rl demonstrated that the brother had a single alpha-locus deletion that he had inherited from his mother. The mild clinical manifestations of this boy are consistent with the often expressed view that excess alpha chains may contribute significantly to the hematologic manifestation of beta-thalassemia.

scholarly journals Mild to Severe Anemia of Undiagnosed Etiology Diagnosed by Genetic Study

2016 ◽  
Vol 36 (2) ◽  
pp. 213-215
Author(s):  
Kalliol Bose ◽  
Md Abu Bakkar Siddique ◽  
Sudipta Ghorai ◽  
Chanchal Kundu ◽  
Sudip Saha
Keyword(s):  
Genetic Study ◽  
Fetal Hemoglobin ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Compound Heterozygous ◽  
Severe Anemia ◽  
Hemoglobin Gene ◽  
Alpha Thalassemia ◽  
Hereditary Persistence ◽  
Gene Study

We report a case of a child with beta thalassemia major, whose mother is a carrier of beta thalassemia and father is having hereditary persistence of fetal hemoglobin. Gene study revealed compound heterozygous for codon 8/9+G and IVS-1-5 G>C point mutation. Another four cases of anemia not responding to iron diagnosed to have alpha thalassemia carrier are also reported here.J Nepal Paediatr Soc 2016;36(2):213-215.

scholarly journals A new form of hereditary persistence of fetal hemoglobin in blacks and its association with sickle cell trait

Blood ◽  
1975 ◽  
Vol 46 (5) ◽  
pp. 683-692 ◽  
Author(s):  
G Stamatoyannopoulos ◽  
WG Wood ◽  
T Papayannopoulou ◽  
PE Nute
Keyword(s):  
Sickle Cell ◽  
Population Study ◽  
Black Family ◽  
Sickle Cell Trait ◽  
Clinical Manifestations ◽  
Fetal Hemoglobin ◽  
Cell Counts ◽  
Hereditary Persistence ◽  
New Form

A new form of hereditary persistence of fetal hemoglobin (HPFH) producing 3%-8% Hb F in heterozygotes and an elevation of F-cell counts as measured by both the Kleihauer test and an antibody fluorescent procedure was found during the study of a black family. Individuals with this anomaly also had sickle cell trait. A sickle cell homozygote who had apparently inherited the HPFH determinant had 20.3% Hb F. Both types of gamma-chains were present in equal proportions in the Hb F of these individuals. A population study revealed other AS individuals with increased Hb F synthesis, three of whom were sibs. The presence of this previously unrecognized form of HPFH might explain the mild clinical manifestations and the hemoglobin phenotypes of sickle cell homozygotes with unusual elevations of Hb F.

scholarly journals A new form of hereditary persistence of fetal hemoglobin in blacks and its association with sickle cell trait

Blood ◽  
1975 ◽  
Vol 46 (5) ◽  
pp. 683-692 ◽  
Author(s):  
G Stamatoyannopoulos ◽  
WG Wood ◽  
T Papayannopoulou ◽  
PE Nute
Keyword(s):  
Sickle Cell ◽  
Population Study ◽  
Black Family ◽  
Sickle Cell Trait ◽  
Clinical Manifestations ◽  
Fetal Hemoglobin ◽  
Cell Counts ◽  
Hereditary Persistence ◽  
New Form

Abstract A new form of hereditary persistence of fetal hemoglobin (HPFH) producing 3%-8% Hb F in heterozygotes and an elevation of F-cell counts as measured by both the Kleihauer test and an antibody fluorescent procedure was found during the study of a black family. Individuals with this anomaly also had sickle cell trait. A sickle cell homozygote who had apparently inherited the HPFH determinant had 20.3% Hb F. Both types of gamma-chains were present in equal proportions in the Hb F of these individuals. A population study revealed other AS individuals with increased Hb F synthesis, three of whom were sibs. The presence of this previously unrecognized form of HPFH might explain the mild clinical manifestations and the hemoglobin phenotypes of sickle cell homozygotes with unusual elevations of Hb F.

scholarly journals The deletion in both common types of hereditary persistence of fetal hemoglobin is approximately 105 kilobases

Blood ◽  
1987 ◽  
Vol 70 (6) ◽  
pp. 1797-1803
Author(s):  
FS Collins ◽  
JL Cole ◽  
WK Lockwood ◽  
MC Iannuzzi
Keyword(s):  
Large Scale ◽  
Fetal Hemoglobin ◽  
Pulsed Field Gel Electrophoresis ◽  
Beta Thalassemia ◽  
Common Mechanism ◽  
Beta Globin ◽  
Gamma Delta ◽  
Large Deletions ◽  
Hereditary Persistence ◽  
American Blacks

The most common forms of hereditary persistence of fetal hemoglobin (HPFH) involve large deletions that remove the adult delta and beta genes but leave the paired fetal genes (G gamma and A gamma) intact. The size of these deletions has previously eluded exact definition. Using pulsed-field gel electrophoresis and the enzyme SfiI, which cuts only rarely in genomic DNA, we have constructed a large-scale restriction map of the beta-globin cluster in normal and HPFH DNA. The deletions in HPFH-1, which occurs in American blacks, and in HPFH-2, which occurs in Ghanaian blacks, are found to be approximately 105 kilobases (kb) in length, though the endpoints are staggered by approximately 5 kb. The fact that two previously reported gamma delta beta-thalassemia deletions to the 5′ side of the beta-globin cluster are also about 100 kb suggests a common mechanism, possibly involving the loss of a complete chromatin loop.

scholarly journals Glycerol-3-phosphate dehydrogenase activity in the red cells of patients with thalassemia

Blood ◽  
1980 ◽  
Vol 55 (4) ◽  
pp. 564-569
Author(s):  
P Fessas ◽  
NP Anagnou ◽  
D Loukopoulos
Keyword(s):  
Cord Blood ◽  
Fetal Hemoglobin ◽  
Thalassemia Major ◽  
Red Cells ◽  
Beta Thalassemia ◽  
Gamma Chain ◽  
Cord Blood Cells ◽  
Chain Synthesis ◽  
Glycerol 3 Phosphate Dehydrogenase ◽  
Normal Adults

L-alpha-Glycerol-3-phosphate dehydrogenase (EC 1.1.1.8) has been reported to be absent in the erythrocytes of normal adults, but can be found in those of cord blood and of thalassemia major. The aid of this study was to investigate whether there is any relation between GDH and gamma-chain synthesis. Erythrocyte GDH activity was determined on 118 different blood samples. It was undetectable in normal adult erythrocytes and definitely high in cord blood cells (23.6 UI/10(11) RBC). Considerable GDH activity was also noted in patients with thalassemia major (11.0 IU10(11) RBC) as well as in cases with pronounced reticulocytosis (11.4 IU/10(11) RBC). Red cells from beta- thalassemia heterozygotes exhibited moderate but distinct GDH activity (5.2 IU/10(11) RBC). After fractionation into young and old erythrocyte populations, clearly higher GDH activity was found in the younger cells; however, there was no significant correlation with the reticulocyte count. Presence of reticulocytes alone appears insufficient to explain the values obtained in cord blood and the thalassemias, especially heterozygous. Furthermore, no direct correlation between GDH and fetal hemoglobin (HbF) was obtained in cord and thalassemic erythrocytes.

Phenotypic effect of heterozygous alpha and beta 0-thalassemia interaction

Blood ◽  
1983 ◽  
Vol 62 (1) ◽  
pp. 226-229 ◽  
Author(s):  
MA Melis ◽  
M Pirastu ◽  
R Galanello ◽  
M Furbetta ◽  
T Tuveri ◽  
...  
Keyword(s):  
Globin Gene ◽  
Beta Thalassemia ◽  
Globin Genes ◽  
Phenotypic Effect ◽  
Screening Programs ◽  
Alpha Thalassemia ◽  
Alpha Globin ◽  
Red Blood Cell Indices ◽  
Endonuclease Mapping ◽  
Glucose 6 Phosphate Dehydrogenase

In this study, we carried out restriction endonuclease mapping in order to characterize the alpha-globin genotype of 10 Sardinian beta 0- thalassemia heterozygotes, all of whom presented with normal red blood cell indices and increased HbA2 levels. In 8 of these subjects, we found the deletion of two alpha-globin genes (-alpha/-alpha), and in the remaining two the deletion of a single alpha-globin gene (- alpha/alpha alpha). In three of these carriers with the (-alpha/-alpha) alpha-globin genotype and in one with the (-alpha/alpha alpha) genotype, we also found the glucose-6-phosphate dehydrogenase (G6PD) defect of the Mediterranean type. On the basis of these findings, we may conclude that the interaction of heterozygous beta 0-thalassemia with alpha-thalassemia, due to the deletion of either one or two alpha- globin genes, may lead to the production of red blood cells with normal indices. The association of the G6PD defect with this thalassemia gene complex may eventually contribute to this effect. We suggest, therefore, that screening programs for heterozygous beta-thalassemia in populations where alpha-thalassemia is also prevalent, should incorporate the determination of HbA2 in the first set of tests.

scholarly journals Alpha-thalassemia in blacks: genetic and clinical aspects and interactions with the sickle hemoglobin gene

Blood ◽  
1986 ◽  
Vol 68 (5) ◽  
pp. 985-990 ◽  
Author(s):  
MH Steinberg ◽  
SH Embury
Keyword(s):  
Molecular Genetics ◽  
Black Population ◽  
Clinical Aspects ◽  
Globin Genes ◽  
Sickle Hemoglobin ◽  
Hemoglobin Gene ◽  
Alpha Thalassemia ◽  
Recent Advances ◽  
Alpha Globin ◽  
Hemoglobin Variants

Recent advances in molecular genetics have permitted detailed study of the human alpha-globin genes and the causes of alpha-thalassemia. In this review, we examine the causes of alpha-thalassemia in the black population and the consequences of the interactions between alpha- thalassemia and structural hemoglobin variants.

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