The hemoglobinopathies, molecular disease mechanisms and diagnostics.
Harteveld CL, Achour A, Arkesteijn SJG, Ter Huurne J, Verschuren M, Bhagwandien-Bisoen S, Schaap R, Vijfhuizen L, El Idrissi H, Koopmann TT.
Harteveld CL, et al.
Int J Lab Hematol. 2022 Sep;44 Suppl 1(Suppl 1):28-36. doi: 10.1111/ijlh.13885.
Int J Lab Hematol. 2022.
PMID: 36074711
Free PMC article.
Review.
The disease mechanisms may involve duplicated alpha-globin genes, mosaic partial Uniparental Isodisomy of chromosome 11p15.4 where the HBB gene is located or haplo-insufficiency of a non-linked gene SUPT5H on chromosome 19q, first described in two Dutch families wit …
The disease mechanisms may involve duplicated alpha-globin genes, mosaic partial Uniparental Isodisomy of chromosome 11p15.4 w …