Identification of a novel and rare α0‐thalassemia 27.0 kb deletion with 9 bp insertion (Lamphun deletion; ‐‐LAMPHUN) in a Thai family.

Autor:	Khamphikham, Pinyaphat, Tepakhan, Wanicha, Tongjai, Siripong, Jan‐ngam, Varit, Laonan, Apichaya, Thimsin, Woraya, Boontha, Siriraj, Santiyos, Sasithorn, Pornprasert, Sakorn
Předmět:	DNA analysis PHYSICAL diagnosis GENETIC mutation ALPHA-Thalassemia THAI people HYPOCHROMIC anemia GENETIC testing ALLELES GENETIC counseling FERTILIZATION in vitro BLOOD testing GENETIC techniques SYMPTOMS CHILDREN
Zdroj:	International Journal of Laboratory Hematology; Feb2024, Vol. 46 Issue 1, p176-179, 4p
Abstrakt:	The article presents a study which introduced a Thai boy with rare deletional HbH genotype caused by a novel insertion-deletion (indel) within the α-globin gene cluster. Topics discussed include reason that new cases of deletional HbH disease and Hb Bart's hydrops fetalis have been being reported and misdiagnosed, results of multiplex ligation-dependent probe amplification (MLPA) analysis, and diagnosis of the proband with uncommon deletional HbH disease.
Databáze:	Complementary Index
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