613985.G.18 - CAGS

613985.G.18

Country

United Arab Emirates

HPO Terms

Anemia

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Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000518.5:c.17_18del	3	0.06	Beta-Thalassemia
NM_000518.5:c.92+5G>C	33	0.66	Beta-Thalassemia
NM_000518.5:c.93-21_96del	4	0.08	Beta-Thalassemia
NM_000518.5:c.315+1G>A	3	0.06	Beta-Thalassemia
NM_000518.5:c.27dup	4	0.08	Beta-Thalassemia
Hb Monroe NM_000518.5:c.92G>C	2	0.04	Beta-Thalassemia
NM_000518.5:c.47G>A	1	0.02	Beta-Thalassemia

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Remarks

Mutations identified in 27 families comprising carrier parents and atleast one β-thalassaemia patient. 85% patients have beta-plus-thalassemia and over 30% are consanguineous.

References

Quaife et al. 1994

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
613985.G.16	United Arab Emirates	Anemia	Unknown			Mutations identified in 137 Emirati β-thalassaemia patients.
613985.G.19	United Arab Emirates	Anemia	Unknown			Mutations identified in 35 unrelated β-thalassaemia patients.

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.