613985.8 - CAGS

613985.8

Country

Egypt

HPO Terms

Decreased mean corpuscular volume; Hypochromia; Increased HbA2 hemoglobin; Persistence of hemoglobin F

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Sex

Male

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000518.5:c.92+6T>C	1	NA	Beta-Thalassemia
NM_000518.5:c.93-1G>A	1	NA	Beta-Thalassemia

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References

Deidda et al. 1990

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
613985.28	Egypt	Anemia	Unknown			Patient with β-thalassemia. Patient was beta-zero.
613985.29	Egypt	Anemia	Unknown			Patient with β-thalassemia. Patient was beta-zero.
613985.30	Egypt	Anemia	Unknown			Patient with β-thalassemia. Patient was beta-zero.
613985.31	Egypt	Anemia	Unknown			Patient with β-thalassemia. Patient was beta-zero.
613985.32	Egypt	Anemia	Unknown			Patient with β-thalassemia. Patient was beta-zero.
613985.33	Egypt	Anemia	Unknown			Patient with β-thalassemia. Patient was beta-zero.
613985.34	Egypt	Anemia	Unknown			Patient with β-thalassemia. Patient was beta-zero.
613985.35	Egypt	Anemia	Unknown			Patient with β-thalassemia. Patient was beta-zero.
613985.36	Egypt	Anemia	Unknown			Patient with β-thalassemia. Patient was beta-zero.
613985.37	Egypt	Anemia	Unknown			Patient with β-thalassemia. Patient was beta-zero.
613985.38	Egypt	Anemia	Unknown			Patient with β-thalassemia. Patient was beta-plus albeit severe.
613985.39	Egypt	Anemia	Unknown			Patient with β-thalassemia. Patient was beta-plus albeit severe.
613985.40	Egypt	Anemia	Unknown			Patient with β-thalassemia. Patient was beta-plus albeit severe.
613985.41	Egypt	Anemia	Unknown			Patient with β-thalassemia. Patient was beta-plus albeit severe.
613985.42	Egypt	Anemia	Unknown			Patient with β-thalassemia. Patient was beta-plus albeit severe.
613985.43	Egypt	Anemia	Unknown			Patient with β-thalassemia. Patient was beta-zero.
613985.44	Egypt	Anemia	Unknown			Patient with β-thalassemia. Patient was beta-zero.
613985.46	Egypt		Unknown

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.