Shine & Lal index as a predictor for early detection of β-thalassemia carriers in a limited resource area in Bandung, Indonesia.

Ani Melani MaskoenLelani ReniartiEdhyana SahiratmadjaJoice SiscaSjarif Hidajat Effendi

Published in: BMC medical genetics (2019)

The Shine & Lal index is helpful in the early screening of β-thalassemia carriers, since this index confirms mutations at CD-26 (c.79G > A) and at IVS1nt5 (c.92 + 5 G > C), which are both common mutations in Bandung, Indonesia. Further DNA analysis is a topic of interest to map variants in globin genes and their distribution across populations.

Keyphrases

sickle cell disease
genome wide
copy number
single molecule
circulating tumor
cell free
gene expression
transcription factor
high density
genome wide identification