Abstract:
:Patients with aplastic anaemia (AA) frequently develop paroxysmal nocturnal haemoglobinuria (PNH) as a late complication. We investigated the frequency of the development of PNH features including a glycosyl phosphatidylinositol (GPI) anchoring defect in 73 Japanese patients with AA. A deficient expression of CD59 was found on erythrocytes and/or granulocytes in 21/73 (28.8%) of the patients. A Ham/sugar water test was positive in 13/21 patients. We also examined mutations of the PIG-A gene in 11 patients with CD59 deficiency. A heteroduplex analysis detected PIG-A gene abnormality in 10/11 patients tested. Nucleotide sequencing was performed in six patients and identified eight mutations including three mutations in one patient. The mutations of the PIG-A gene were all different and included two single-base insertions, one single-base deletion, two two-base deletions, and one each of eight-base insertion and nine- and ten-base deletions. All mutations but one caused frameshifts. Our findings indicate that a high proportion of Japanese patients with severe AA have a GPI-anchoring defect and that the PIG-A gene is mutated in the AA patients who had a GPI deficiency. We found no significant difference in the pattern of the PIG-A gene mutation between the AA patients with a GPI deficiency and those with de novo PNH.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Azenishi Y,Ueda E,Machii T,Nishimura J,Hirota T,Shibano M,Nakao S,Kinoshita T,Mizoguchi H,Kitani Tdoi
10.1046/j.1365-2141.1999.01214.xsubject
Has Abstractpub_date
1999-03-01 00:00:00pages
523-9issue
3eissn
0007-1048issn
1365-2141journal_volume
104pub_type
杂志文章abstract::A significant number of patients diagnosed with beta-thalassaemia develop clinical and histopathological manifestations similar to those of an inherited disorder called Pseudoxanthoma elasticum (PXE). The inherited PXE is caused by mutations in the ATP-binding cassette, subfamily C (CFTR/MRP), member 6 (ABCC6) gene an...
journal_title:British journal of haematology
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journal_title:British journal of haematology
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