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

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.

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

Blood ◽

10.1182/blood.v88.5.1898.bloodjournal8851898 ◽

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

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Alpha thalassemia and stroke risk in sickle cell anemia

American Journal of Hematology ◽

10.1002/ajh.2830450402 ◽

1994 ◽

Vol 45 (4) ◽

pp. 279-282 ◽

Cited By ~ 86

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

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

Clinical Hemorheology and Microcirculation ◽

10.3233/ch-131772 ◽

2014 ◽

Vol 57 (1) ◽

pp. 63-72 ◽

Cited By ~ 18

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

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Controversies surrounding the effects of beta S-haplotype and alpha- thalassemia-2 on the clinical severity of sickle cell anemia [letter]

Blood ◽

10.1182/blood.v83.9.2754.2754 ◽

1994 ◽

Vol 83 (9) ◽

pp. 2754-2754

Author(s):

LS Chan ◽

DR Powars

Keyword(s):

Sickle Cell ◽

Sickle Cell Anemia ◽

Clinical Severity ◽

S Haplotype ◽

Alpha Thalassemia

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

Blood ◽

10.1182/blood.v62.2.286.286 ◽

1983 ◽

Vol 62 (2) ◽

pp. 286-290 ◽

Cited By ~ 54

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.

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

Blood ◽

10.1182/blood.v60.6.1411.1411 ◽

1982 ◽

Vol 60 (6) ◽

pp. 1411-1419 ◽

Cited By ~ 27

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.

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

Clinical Chemistry ◽

10.1093/clinchem/31.9.1509 ◽

1985 ◽

Vol 31 (9) ◽

pp. 1509-1513 ◽

Cited By ~ 12

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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Effects of thalassemia and microcytosis on the hematologic and vasoocclusive severity of sickle cell anemia

Blood ◽

10.1182/blood.v63.6.1353.1353 ◽

1984 ◽

Vol 63 (6) ◽

pp. 1353-1360 ◽

Cited By ~ 121

Author(s):

MH Steinberg ◽

W Rosenstock ◽

MB Coleman ◽

JG Adams ◽

O Platica ◽

...

Keyword(s):

Gene Mapping ◽

Sickle Cell ◽

Sickle Cell Anemia ◽

Hemoglobin Concentration ◽

Reciprocal Relationship ◽

Acute Chest Syndrome ◽

Mean Corpuscular Hemoglobin ◽

Aseptic Necrosis ◽

Alpha Thalassemia ◽

Alpha Globin

Abstract The characteristic clinical heterogeneity of sickle cell anemia (HbSS) may be, in part, a result of its interactions with alpha-thalassemia. Although alpha-thalassemia clearly affects some hematologic features of HbSS, its role in modulating the vasoocclusive severity of disease is not clear. To further explore this relationship, we examined the incidence of painful episodes, acute chest syndrome, aseptic bone necrosis, and leg ulcers in 3 patient groups with sickle cell disease: (1) 2,147 patients over age 2 yr, stratified according to mean corpuscular volume (MCV); (2) 183 patients selected on the basis of microcytosis and elevated HbA2, on whom globin biosynthesis studies were done; and (3) 125 patients who had alpha-globin genotype assigned by restriction endonuclease gene mapping. When patients were stratified by MCV, there was a reciprocal relationship between HbA2 levels and MCV, reflecting the presence of patients with beta o and alpha- thalassemia in the low MCV groups. The erythrocyte indices and HbA2 levels in patients classified as HbSS-alpha-thalassemia, by either globin synthesis studies or gene mapping, were very similar to those previously reported by others. Neither microcytosis, beta o, or alpha- thalassemia appeared to provide any clear protection from the vasoocclusive complication evaluated, and the prevalence of aseptic necrosis was increased in patients with microcytosis over age 20 yr and in groups with alpha-thalassemia. The effects of a reduced MCV and mean corpuscular hemoglobin concentration (MCHC), of possible benefit by themselves, when accompanied by a reduction in hemolysis and rise in hemoglobin concentration, as in HbSS-alpha-thalassemia, may cause sufficient rise in blood viscosity in critical vascular beds to impair blood flow and negate any amelioration of vasoocclusive complications in HbSS.

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