Interaction Between HBS-β°-Tha lassemia and α-Thalassemia

Steinberg, Martin H.; Coleman, Mary B.; Adams, Joel C.; Rosenstock, Wendy

doi:10.1097/00000441-198412000-00001

Cited by 14 publications

(7 citation statements)

References 40 publications

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“…Previously published reports have shown that α-thal can also modify the hematological and clinical features of subjects with Hb S-β 0 -thal (49,50).…”

Section: Discussionmentioning

confidence: 96%

Coinheritance of α-Thalassemia Decreases the Risk of Cerebrovascular Disease in a Cohort of Children with Sickle Cell Anemia

et al. 2010

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The study estimated α-thalassemia (α-thal) prevalence and assessed its associations with clinical and hematological features in a random sample of Brazilian children with sickle cell anemia (208 Hb SS and 13 Hb S-β⁰-thal). α-Thalassemia genotyping was carried out by multiplex polymerase chain reaction (m-PCR) for seven alleles. Clinical and hematological data were retrieved from the 221 children's medical files. Their ages ranged from 2.5 to 10.4 years. Of the Hb SS children, 27.9% carried -α(3.7)/αα and 1.4% -α(3.7)/-α(3.7). The presence of α-thal was significantly associated with reduction in MCV, MCH, WBC values and reticulocyte counts. No significant association with blood transfusion or acute chest syndrome (ACS), was found. α-Thalassemia genotypes were strongly associated with reduction in risk for cerebrovascular disease (CVD) (conditional and abnormal transcranial Doppler or stroke; p = 0.007). The interaction of α-thal with other modulating factors should be investigated in order to define subphenotypes of the disease and to use them as clinical tools in the follow-up care of patients.

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“…Previously published reports have shown that α-thal can also modify the hematological and clinical features of subjects with Hb S-β 0 -thal (49,50).…”

Section: Discussionmentioning

confidence: 96%

Coinheritance of α-Thalassemia Decreases the Risk of Cerebrovascular Disease in a Cohort of Children with Sickle Cell Anemia

et al. 2010

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“…[9,10] This observation is similar to that found in Hb S trait and Hb S=b-thal. [11][12][13][14][15][16] Elevated Hb A 2 might reflect an increase of a-globin chains available for tetramer formation with d-globin chains, suggesting a slightly reduced affinity of the b S with the a chain. [11] An analogous explanation may apply to Hb G-Makassar.…”

Section: Discussionmentioning

confidence: 99%

Hb G-MAKASSAR [β6(A3)Glu→Ala; CODON 6 (GAG→GCG)]: MOLECULAR CHARACTERIZATION, CLINICAL, AND HEMATOLOGICAL EFFECTS

et al. 2002

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We report a Thai family in which five members are Hb G-Makassar heterozygotes and one member is, in addition, a heterozygote for beta0-thalassemia (IVS-I-1, G-->T). We confirm that the previously presumed mutation at codon 6 of the beta-globin gene is GAG-->GCG. Hb G-Makassar heterozygotes are asymptomatic and hematologically normal. The Hb G-Makassar/beta0-thalassemia compound heterozygote has features of thalassemia minor. A simple and rapid polymerase chain reaction-restriction fragment length polymorphism for the detection of Hb G-Makassar is described.

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“…The latter combination has been described in a few patients [24,28,29]. An MCV less than 70¯and an HbA 2 > 6:0% suggest sickle-O -thalassemia plus two -gene deletion [29].…”

Section: Onc Ur R Ent a -Th Alassem Ia And Sic K Le C Ell Anem Ia Ementioning

confidence: 99%

EFFECT OF Α-Globin GENOTYPE ON THE PATHOPHYSIOLOGY OF SICKLE CELL DISEASE

Ballas¹

2001

Pediatric Pathology & Molecular Medicine

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The clinical picture of sickle cell disease is heterogeneous and varies tremendously among patients and in the same patient from time to time. The level of HbF, alpha-genotype, beta-haplotype, age, sex, and the environment are important factors that modify the clinical picture of sickle cell disease. My paper focuses on the effect of alpha-globin genotype on the pathophysiology of sickle cell anemia, HbSC disease, and sickle beta-thalassemia. The data indicate that the coinheritance of alpha-thalassemia results in some beneficial effects and in some harmful effects. Thus, there are trade-offs involved in this interaction in which the salutary effects are undermined by harmful ones.

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Interaction Between HBS-β°-Tha lassemia and α-Thalassemia

Cited by 14 publications

References 40 publications

Coinheritance of α-Thalassemia Decreases the Risk of Cerebrovascular Disease in a Cohort of Children with Sickle Cell Anemia

Coinheritance of α-Thalassemia Decreases the Risk of Cerebrovascular Disease in a Cohort of Children with Sickle Cell Anemia

Hb G-MAKASSAR [β6(A3)Glu→Ala; CODON 6 (GAG→GCG)]: MOLECULAR CHARACTERIZATION, CLINICAL, AND HEMATOLOGICAL EFFECTS

EFFECT OF Α-Globin GENOTYPE ON THE PATHOPHYSIOLOGY OF SICKLE CELL DISEASE

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