Η ετερογένεια των γ-αλυσίδων σε περιπτώσεις με αυξημένη εμβρυϊκή αιμοσφαιρίνη

The fetal hemoglobin of Hellenic origin patients with a heterozygosity or homozygosity for β-thalassemia, heterozygosity for δβ-thalassemia, Hb Lepore, β-thal/HbS condition and normal newborns, was quantitated by alkali denaturation and further characterized by high pressure liquid chromatography. Data for the three types of γ-chain were compared with those obtained for the HbF from previously reported black and nonblack patients with similar conditions. The ᴳγ-chain levels in Greek β-thal. heterozygotes were those observed in adults, with only one exception concerning an 83 year old woman. The level of the ᴬγᵀ-chain in ᴬγᵀ heterozygotes varied greatly whether in cis or in trans to the β-thal. determinant. Beta thal. homozygotes had ᴳγ levels varying between 30 and 70%, 14 of 35 patients carried the ᴬγᵀ gene. Ten were ᴬγᵀ heterozygotes and four were homozygotes. The ᴳγ-chain levels in Greek δβ-thal. heterozygotes varied and fall into two distinct groups with either the newborn or the adult level. A ᴬγᵀ heterozygosity in trans to the δβ-thal. determinant suggests that 80-90% of the γ-chains is produced by genes in cis to this anomaly. There is no statistically significant difference between the levels of γ-chains among the members of the families. The ᴳγ-chain levels in Hb Lepore heterozygotes had only the adult values. In β-thal./HbS patients the ᴳγ-chain levels were either 40% or over 60%. Only one (in a total of 8) was ᴬγᵀ positive.

Grantor dc:publisher

University of Ioannina

Year dc:date

1990

Authors dc:creator

• Georgiou, Ioannis
• Γεωργίου, Ιωάννης

• ᴳγ-αλυσίδες
• ΑγΙ αλυσίδες
• ᴬγᵀ-αλυσίδες
• γ-αλυσίδες
• Εμβρυϊκή αιμοσφαιρίνη
• Ετεροζυγώτες Hb-Lepore
• Ετεροζυγώτες δβ-μ.α. και ομοζυγώτες
• Κληρονομική παραμονή της εμβρυϊκής αιμοσφαιρίνης
• Μικροδρεπανοκυτταρική αναιμία
• Ομοζυγώτες β-μεσογειακής αναιμίας & ετερζυγώτες
• Ιατρική και Επιστήμες Υγείας
• Βασική Ιατρική
• Medical and Health Sciences
• Basic Medicine

Language dc:language

gre

Identifier

10.12681/eadd/1480

OAI identifier oai:identifier

oai:10442/1480