TY - JOUR
T1 - Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene
AU - Fermo, Elisa
AU - Bianchi, Paola
AU - Vercellati, Cristina
AU - Rees, David C.
AU - Marcello, Anna P.
AU - Barcellini, Wilma
AU - Zanella, Alberto
PY - 2010/8
Y1 - 2010/8
N2 - We report the clinical, haematological and molecular characteristics of two triose phosphate isomerase deficient patients affected by haemolytic anaemia and neuromuscular impairment. The sequence of complete TPI gene showed the presence of two previously undescribed mutations: c.722 T>C (Phe240Ser) and c.28 insG; each of the two unrelated patients showed the new mutation in compound heterozygosity with the most common variant Glu104Asp. The association of Glu104Asp with c.28 insG resulted in a very severe clinical pattern.
AB - We report the clinical, haematological and molecular characteristics of two triose phosphate isomerase deficient patients affected by haemolytic anaemia and neuromuscular impairment. The sequence of complete TPI gene showed the presence of two previously undescribed mutations: c.722 T>C (Phe240Ser) and c.28 insG; each of the two unrelated patients showed the new mutation in compound heterozygosity with the most common variant Glu104Asp. The association of Glu104Asp with c.28 insG resulted in a very severe clinical pattern.
KW - chronic haemolytic anaemia
KW - erythrocyte metabolism
KW - mutations
KW - TPI gene
KW - triose phosphate isomerase deficiency
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U2 - 10.1111/j.1600-0609.2010.01451.x
DO - 10.1111/j.1600-0609.2010.01451.x
M3 - Article
C2 - 20374271
AN - SCOPUS:77954721069
SN - 0902-4441
VL - 85
SP - 170
EP - 173
JO - European Journal of Haematology
JF - European Journal of Haematology
IS - 2
ER -