STUDY OF MOLECULAR BASIS OF THALASSAEMIA INTERMEDIA AND IT'S RELATION TO HEMATOLOGICAL INDEXES AND CLINICAL FINDINGS

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AKBARI M.T.; IZADYAR MINA; IZADI P.; VARDASBI S.

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Journal: HAKIM RESEARCH JOURNAL Year:2001 | Volume:3 | Issue:4 Page(s): 298-307

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Title

STUDY OF MOLECULAR BASIS OF THALASSAEMIA INTERMEDIA AND IT'S RELATION TO HEMATOLOGICAL INDEXES AND CLINICAL FINDINGS

Author(s)

AKBARI M.T. | IZADYAR MINA | IZADI P. | VARDASBI S. | Issue Writer Certificate

Keywords

HALASSAEMIA INTERMEDIAQ4

XMNL MARKERQ4

BETAQ4

GLOBIN MUTATIOJLSQ4

MOLECULAR BASISQ4

Abstract

This investigation conducted on the MOLECULAR BASIS of thalassemia intermedia in 50 Iranian patients. The patients were clinically heterogeneous. The age at diagnosis varied considerably amongst them with mean of 7.9 years. These patients developed few symptoms such as splenomegaly or skeletal changes and just a few number of them needed occasional blood transfusion. Other therapeutic interventions included splenectomy in one third of them and administration of folic acid and hydroxy urea in some patients. Hemoglobin concentration was between 7-10 g/dl in 73% and 10-12 g/dl in 23% of the cases. Ninety Six percent of the patients had high Hb F levels. This indicates a substantial elevation of expression of the gamma globin genes.All patients were examined for the - 158 C---> T substitution in the G-gamma promoter locus, recognized by cutting with the restriction enzyme Xmnl , and 76% of the cases had the mutation either in homozygous or heterozygdus forms. The patients were also scanned for the IVSII-1 BETA-globin gene mutation, the most common in the Iranian population, and 60% of the them had the mutation in either homozygous or heterozygous combinations. About 96% of the patients with IVSII-1 mutation had the XMNL MARKER concurrently. Examining the patients for both molecular determinants, it was established that there is physical linkage between the XMNL MARKER and the IVSII-1 allele at least in 72% of the cases who carried the two mutations. It was previously postulated that the coexistence of the XMNL MARKER and some severe bata globin alleles in cis situation under the condition of heamatopoetic stress might contribute to the overproduction of HbF causing HPFH. It seems this phenomenon endows mild features of intermedia in a big number of the Iranian tHALASSAEMIA INTERMEDIA patients.

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