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Functionality:
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Globin gene causative mutation |
Pathogenicity:
|
N/A |
|
Common Name:
|
78.9 kb Gγ(Aγδβ)0 del |
HGVS Name:
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NC_000011.10:g.5169895_5248821delins5216274_5216309 |
|
Hb Name:
|
N/A |
Protein Info:
|
N/A |
|
Also known as:
|
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We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Comments: Found in a homozygous state in a 14-year old male presented with severe anaemia and moderate microcytosis and hypochromia. The patient had no history of blood transfusion and showed extremely elevated HbF level which is essential for his survival. Several single-nucleotide polymorphisms associated with high HbF levels were identified in the patient (rs7719521, rs4910742, rs1391619, rs2855123 and rs2855126) by whole genome sequencing analysis. RNA-sequencing revealed increased expression levels of TAL1, ATF2, and ATF4, which act as positive regulators of HbF levels and decreased LYAR, which is essential for γ-globin gene silencing. The deletion includes the genes HBB, OR51V1, HBBP1, HBD, OR52Z1, BGLT3, and partial of the HBG1 gene. Parents and sister of the patient were heterozygotes for the deletion. They exhibited mild hypochromia and microcytosis and moderately elevated level of HbF.
