scholarly journals The leftward deletion alpha-thal-2 haplotype in a black subject with hemoglobin SS

Blood ◽  
1985 ◽  
Vol 65 (3) ◽  
pp. 769-771
Author(s):  
SH Embury ◽  
MA Gholson ◽  
P Gillette ◽  
RF Rieder
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Black Population ◽  
Alpha Thalassemia ◽  
Black Individual ◽  
Black Subject ◽  
The Common ◽  
Cellular Pathology

We have identified a black individual with homozygous sickle cell anemia who is the silent carrier of alpha-thalassemia (genotype - alpha/alpha alpha) due to heterozygosity for the leftward deletion alpha-thal-2 haplotype. This deletion has not been described previously in a black subject and is the only leftward deletion that we have found among 255 alpha-thal-2 chromosomes from sickle cell subjects. Its effects on the clinical, hematologic, biosynthetic, and cellular pathology of sickle cell anemia resemble those reported for the common alpha-thalassemia genotypes of the black population.

scholarly journals The leftward deletion alpha-thal-2 haplotype in a black subject with hemoglobin SS

Blood ◽  
1985 ◽  
Vol 65 (3) ◽  
pp. 769-771 ◽  
Author(s):  
SH Embury ◽  
MA Gholson ◽  
P Gillette ◽  
RF Rieder
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Black Population ◽  
Alpha Thalassemia ◽  
Black Individual ◽  
Black Subject ◽  
The Common ◽  
Cellular Pathology

Abstract We have identified a black individual with homozygous sickle cell anemia who is the silent carrier of alpha-thalassemia (genotype - alpha/alpha alpha) due to heterozygosity for the leftward deletion alpha-thal-2 haplotype. This deletion has not been described previously in a black subject and is the only leftward deletion that we have found among 255 alpha-thal-2 chromosomes from sickle cell subjects. Its effects on the clinical, hematologic, biosynthetic, and cellular pathology of sickle cell anemia resemble those reported for the common alpha-thalassemia genotypes of the black population.

Alpha thalassemia, but not βS-globin haplotypes, influence sickle cell anemia clinical outcome in a large, single-center Brazilian cohort

2021 ◽  
Author(s):  
Betânia Lucena Domingues Hatzlhofer ◽  
Diego Antonio Pereira-Martins ◽  
Igor de Farias Domingos ◽  
Gabriela da Silva Arcanjo ◽  
Isabel Weinhäuser ◽  
...  
Keyword(s):  
Clinical Outcome ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Single Center ◽  
Alpha Thalassemia ◽  
Brazilian Cohort

scholarly journals Age dependence of the gene frequency of alpha-thalassemia in sickle cell anemia in Cuba [letter]

Blood ◽  
1996 ◽  
Vol 88 (5) ◽  
pp. 1898-1899
Author(s):  
G Martinez ◽  
A Muniz ◽  
E Svarch ◽  
E Espinosa ◽  
RL Nagel
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Gene Frequency ◽  
Age Dependence ◽  
Alpha Thalassemia

Alpha thalassemia and stroke risk in sickle cell anemia

1994 ◽  
Vol 45 (4) ◽  
pp. 279-282 ◽  
Author(s):  
Robert J. Adams ◽  
Abdullah Kutlar ◽  
Virgil McKie ◽  
Elizabeth Carl ◽  
Fenwick T. Nichols ◽  
...  
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Stroke Risk ◽  
Alpha Thalassemia

Alpha thalassemia protects sickle cell anemia patients from macro-albuminuria through its effects on red blood cell rheological properties

2014 ◽  
Vol 57 (1) ◽  
pp. 63-72 ◽  
Author(s):  
Yann Lamarre ◽  
Marc Romana ◽  
Nathalie Lemonne ◽  
Marie-Dominique Hardy-Dessources ◽  
Vanessa Tarer ◽  
...  
Keyword(s):  
Blood Cell ◽  
Rheological Properties ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Red Blood Cell ◽  
Alpha Thalassemia

scholarly journals Alpha-thalassemia is related to prolonged survival in sickle cell anemia

Blood ◽  
1983 ◽  
Vol 62 (2) ◽  
pp. 286-290 ◽  
Author(s):  
JG Mears ◽  
HM Lachman ◽  
D Labie ◽  
RL Nagel
Keyword(s):  
Life Expectancy ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Prolonged Survival ◽  
Alpha Thalassemia ◽  
The Usa ◽  
Thalassemia Trait ◽  
Alpha Gene ◽  
Black Populations

Abstract We have determined the frequency of deletional alpha-thalassemia in black populations in the USA and Africa that harbor sickle cell anemia. In normals, the frequency of the chromosome bearing a deletion of one of the two normal alpha gene loci, designated (-alpha), ranged from 0.12 to 0.16, and in sickle trait subjects, the frequency ranged from 0.18 to 0.20. By contrast, in sickle cell anemia subjects, the frequency was significantly greater and ranged from 0.22 to 0.33. Analysis demonstrated that the greater frequency in the last group was primarily a result of an increased number of subjects with alpha- thalassemia trait (also called homozygous alpha-thalassemia-2). In addition, the frequency of the (-alpha) chromosome was found to increase progressively with age, supporting the hypothesis that alpha- thalassemia is favorable to the survival of subjects with sickle cell anemia. Thus, individuals who inherit alpha-thalassemia and sickle cell anemia may represent a subgroup of patients with a longer life expectancy.

scholarly journals The Co-Inheritance of Alpha-Thalassemia and Sickle Cell Anemia Is Associated with Better Hematological Indices and Lower Consultations Rate in Cameroonian Patients and Could Improve Their Survival

PLoS ONE ◽  
2014 ◽  
Vol 9 (6) ◽  
pp. e100516 ◽  
Author(s):  
Maryam Bibi Rumaney ◽  
Valentina Josiane Ngo Bitoungui ◽  
Anna Alvera Vorster ◽  
Raj Ramesar ◽  
Andre Pascal Kengne ◽  
...  
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Hematological Indices ◽  
Alpha Thalassemia

scholarly journals Bone marrow infarction in sickle cell anemia: correlation with hematologic profiles

Blood ◽  
1982 ◽  
Vol 60 (6) ◽  
pp. 1411-1419 ◽  
Author(s):  
PF Milner ◽  
M Brown
Keyword(s):  
Bone Marrow ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Fat Embolism ◽  
Medullary Bone ◽  
Sulfur Colloid ◽  
Initial Management ◽  
Alpha Thalassemia ◽  
Sickle Cell Crisis ◽  
99Mtc Sulfur Colloid

Abstract Bone marrow infarction was investigated by 99mTc-sulfur colloid imaging in 42 patients with sickle cell anemia (SS) over a period of 2 yr. Marrow defects were demonstrated in 28 patients (66.6%), and in 15 (aged 19--52 yr), they were matched by roentgenographic evidence of medullary bone infarction. Repeated images showed no change in the size or site of these defects. Among 13 patients (aged 6--32 yr), all in crisis when initially examined, marrow defects were not associated with roentgenographic changes, and in many cases, repeated images showed resolution or decrease in size of the defects in 3--6 mo, even if the limb had been swollen and the marrow defect large. Among 14 patients (aged 18--36 yr), all asymptomatic at the time of study, no defects were found. Comparison of hematologic variables revealed a higher mean hemoglobin and hematocrit level among those with marrow infarcts (p less than 0.0001). High levels of HbF, or the presence of alpha- thalassemia, did not protect against marrow infarction. Pulmonary fat embolism was not observed. 99mTc-sulfur colloid marrow imaging was considered to provide more useful information in the initial management of bone pain and swelling in sickle cell crisis than either roentgenographs or conventional 99mTc-methyldiphosphate bone images.

Gene probes: application to prenatal and postnatal diagnosis of genetic disease.

1985 ◽  
Vol 31 (9) ◽  
pp. 1509-1513 ◽  
Author(s):  
H H Kazazian
Keyword(s):  
Restriction Endonuclease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Phenylalanine Hydroxylase ◽  
Single Gene ◽  
Indirect Detection ◽  
Dna Polymorphisms ◽  
Beta Thalassemia ◽  
Gene Probes ◽  
Alpha Thalassemia

Abstract Gene probes can now be used to detect a variety of mutations that produce single-gene disorders. In present clinical practice, restriction endonuclease analysis is used for the prenatal diagnosis of sickle cell anemia, alpha-thalassemia, and beta-thalassemia. Direct detection of the mutation is possible in alpha-thalassemia, where a deletion has usually occurred, and in sickle cell anemia, where the mutation alters the recognition sequence of the restriction endonuclease, Mst II. Indirect detection of beta-thalassemia is based on using normal variations in DNA (DNA polymorphisms) to track normal and affected beta-globin genes in families. This latter kind of analysis is also useful in detecting the phenylalanine hydroxylase genes affected in phenylketonuria and will often be used in disorders where the mutations are unknown. In cases where the mutation is known, direct analysis by use of oligonucleotide probes is a new and important advance. An example of this type of gene detection in a family with classical hemophilia is presented. In addition, with chorion villus biopsy, detection of these inherited diseases is feasible by the 12th week of pregnancy.

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