Phenotypic effect of α-globin gene numbers on Indian sickle β-thalassemia patients.

[alpha-thalassemia]

Sickle cell β-thalassemia is a compound heterozygous state of β-thalassemia and sickle cell anemia . Patient with these conditions showed mild -to -severe clinical phenotype .The objective of this study was to evaluate the effects of α-globin gene numbers on the phenotype of sickle cell β-thalassemia patients .Seventy -five sickle cell β-thalassemia patients were characterized . Clinical , hematological , and molecular characterization was performed in all subjects . Amplified refectory mutation system-polymerase chain reaction was applied for β-thalassemia mutation study while α-genotyping was conducted by Gap -PCR .Highest frequency of IVS 1 -5 (33 out of 75 patients ) β-thalassemia genotype was recorded . Twenty -eight patients were reported with α-globin chain deletion while four had α-triplications (Anti α-3 .7 kb ). Sickle β-thalassemia patients with α-chain deletions ameliorate hematological and clinical variables .This study indicates that the coexistence of α-globin chain deletions showed mild phenotype instead of absence of α-chain deletions while the patients with triplication of α-genes express severe phenotype .

Diseases
Validation

Diseases presenting "anemia" symptom

22q11.2 deletion syndrome

alpha-thalassemia

canavan disease

child syndrome

coats disease

congenital toxoplasmosis

cowden syndrome

cutaneous mastocytosis

cystinuria

dedifferentiated liposarcoma

dracunculiasis

erythropoietic protoporphyria

esophageal adenocarcinoma

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

kallmann syndrome

kindler syndrome

lamellar ichthyosis

liposarcoma

omenn syndrome

scrub typhus

sneddon syndrome

typhoid

waldenström macroglobulinemia

werner syndrome

wiskott-aldrich syndrome

This symptom has already been validated