Abstract:
:We present the case of a child in whom beta-thalassemia (thal) major was apparently caused by homozygosity for a 4-base deletion mutation [codons 41/42 (-TTCT)] of the beta-globin gene. However, the mutation was not identified in the father. The presence of a deletional beta-thal was detected by long-range polymerase chain reaction (PCR). We emphasize that the mutations found in the patient should always be confirmed to be present in both parents before molecular analysis is employed for clinical purposes.
journal_name
Hemoglobinjournal_title
Hemoglobinauthors
Liao C,Feng Q,Li J,Huang Y,Li Ddoi
10.1080/03630260701459432subject
Has Abstractpub_date
2007-01-01 00:00:00pages
397-400issue
3eissn
0363-0269issn
1532-432Xpii
780668978journal_volume
31pub_type
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