Implication of Globin Gene Expression, Hemoglobin F and Hemoglobin E Levels on β-Thalassemia/Hb E Disease Severity.

[alpha-thalassemia]

One of the factors affecting the degree of severity in β-thalassemia disease is the presence of unmatched α-hemoglobin chains . Thus , the expression levels of globin genes in reticulocytes of β-thalassemia subjects were measured using quantitative RT-PCR , demonstrating that α /β globin mRNA ratio , as well as levels of γ-globin mRNA and Hb F , increased with progressing degree of β globin synthesis defect . The levels of γ-globin mRNA and Hb F could not be directly correlated with severity of β-thalassemia /Hb E disease due to a low statistical power of this analysis . Higher levels of Hb E were present , however , in clinically mild patients , as compared to moderately severe β-thalassemia /Hb E subjects . This suggests that in β-thalassemia /Hb E disease , elevation of Hb E level through enhancing correctly spliced β (E )-globin mRNA offers another approach in ameliorating disease severity . In addition , co -inheritance of α-thalassemia 2 trait in β-thalassemia /Hb E subjects was associated with milder outcome compared with those with the same β-thalassemia genotypes , confirming the notion of the beneficial effect of a more balanced α :β-globin chain ratio .

Diseases
Validation

Diseases presenting "however" symptom

adrenal incidentaloma

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cushing syndrome

dedifferentiated liposarcoma

dracunculiasis

dystrophic epidermolysis bullosa

esophageal carcinoma

focal myositis

heparin-induced thrombocytopenia

hodgkin lymphoma, classical

hydrocephalus with stenosis of the aqueduct of sylvius

junctional epidermolysis bullosa

krabbe disease

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neuralgic amyotrophy

oculocutaneous albinism

omenn syndrome

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

sneddon syndrome

thoracic outlet syndrome

von hippel-lindau disease

wiskott-aldrich syndrome

x-linked adrenoleukodystrophy

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