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Clinical severity of non‐deletion form of HbH disease (—— Med /αα thal )
Author(s) -
Marzo R.,
Gioco P.,
Giambona A.,
Acuto S.,
Sammarco P.,
Oddo G.,
Maggio A.
Publication year - 1986
Publication title -
scandinavian journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0036-553X
DOI - 10.1111/j.1600-0609.1986.tb02647.x
Subject(s) - genotype , gene , disease , restriction enzyme , endonuclease , genetics , medicine , microbiology and biotechnology , biology
Interaction functionnelle, We carried out a‐globin gene analysis by restriction endonuclease mapping in a family with 2 cases of HbH disease. These data show that HbH disease in this family results from the interaction between a common deletional defect and a less common non‐deletion a‐thal lesion (—— Med /αα thal ). Furthermore, the presence of a P‐thal determinant in this family was investigated by P gene polymorphism study. We showed that a patient with HbH disease also inherited a (β‐thal determinant from the mother and although this was a β O ‐thal gene, it was not sufficient to mask the severe a chain deficiency. The —— Med /αα thal genotype is more severe than other types of a thalassaemia interactions causing HbH disease, probably because the expression of aalhal determinant may be lower than that of an a‐thal determinant containing just a single a gene (‐a) and the output so poor that the presence of one β‐thal gene does not significantly change the clinical picture.