TY - JOUR
T1 - Diagnosis of beta-thalassaemia carriers in the Sultanate of Oman
AU - Daar, Shahina
AU - Gravell, David
N1 - Publisher Copyright:
© Sultan Qaboos University.
PY - 2006/6
Y1 - 2006/6
N2 - Background: Haemoglobinopathies are a major cause of morbidity in the Sultanate of Oman and premarital screening is being encouraged in order to reduce the number of affected births. The identification of β-thalassaemia carrier status is an essential prerequisite of any screening programme. However, the level of Haemoglobin (Hb) A2, which is used to detect β-thalassaemia carriers, can be affected by other factors including iron deficiency, concurrent a thalassaemia and the type of DNA mutation present. Objectives: The following study was undertaken to ascertain if the Hb A2 level is an appropriate tool for the identification of β-thalassaemia carriers in the Omani population. Method: Hb A2 was measured by high performance liquid chromatography (HPLC) in 160 obligate carriers of β-thalassaemia. 158 subjects had Hb A2 levels above 3.5% indicating β-thalassaemia trait. Two subjects had slightly lower levels and were found to be iron deficient. After therapy both these subjects' Hb A2 levels increased to above 3.5%. Conclusion: In the absence of iron deficiency, Hb A2 is an accurate marker for the presence of β-thalassaemia trait in the Sultanate of Oman.
AB - Background: Haemoglobinopathies are a major cause of morbidity in the Sultanate of Oman and premarital screening is being encouraged in order to reduce the number of affected births. The identification of β-thalassaemia carrier status is an essential prerequisite of any screening programme. However, the level of Haemoglobin (Hb) A2, which is used to detect β-thalassaemia carriers, can be affected by other factors including iron deficiency, concurrent a thalassaemia and the type of DNA mutation present. Objectives: The following study was undertaken to ascertain if the Hb A2 level is an appropriate tool for the identification of β-thalassaemia carriers in the Omani population. Method: Hb A2 was measured by high performance liquid chromatography (HPLC) in 160 obligate carriers of β-thalassaemia. 158 subjects had Hb A2 levels above 3.5% indicating β-thalassaemia trait. Two subjects had slightly lower levels and were found to be iron deficient. After therapy both these subjects' Hb A2 levels increased to above 3.5%. Conclusion: In the absence of iron deficiency, Hb A2 is an accurate marker for the presence of β-thalassaemia trait in the Sultanate of Oman.
KW - Hb A
KW - Sultanate of Oman
KW - β-thalassaemia trait
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M3 - Article
AN - SCOPUS:79952964827
SN - 2075-051X
VL - 6
SP - 27
EP - 31
JO - Sultan Qaboos University Medical Journal
JF - Sultan Qaboos University Medical Journal
IS - 1
ER -