Hb G-Waimanalo or 64(E13)AsAsn was first discovered in 1973 in a male of Filipino ancestry (l), and later reported in Japanese and Filipino families (2-5). The same mutation was also detected in a family of Arabian origin as Hb Aida (6). It is a slow-moving variant in electrophoresis at alkaline pH, and cathodal in isoelectrofocusing (IEF) (3), which has been shown to be synthesized at a normal rate, to be stable in the isopropanol test, and to have a normal oxygen affinity (2,3). In this paper we describe the occurrence of the variant in a Caucasian family.
Hb G-Waimanalo [alpha 64(E13)Asp-->Asn] observed in a Caucasian family / Manca, L; Masala, B; Manca, M; Ferranti, Pasquale; Pucci, Pietro. - In: HEMOGLOBIN. - ISSN 0363-0269. - STAMPA. - 18:1(1994), pp. 53-56. [10.3109/03630269409014145]
Hb G-Waimanalo [alpha 64(E13)Asp-->Asn] observed in a Caucasian family.
FERRANTI, PASQUALE;PUCCI, PIETRO
1994
Abstract
Hb G-Waimanalo or 64(E13)AsAsn was first discovered in 1973 in a male of Filipino ancestry (l), and later reported in Japanese and Filipino families (2-5). The same mutation was also detected in a family of Arabian origin as Hb Aida (6). It is a slow-moving variant in electrophoresis at alkaline pH, and cathodal in isoelectrofocusing (IEF) (3), which has been shown to be synthesized at a normal rate, to be stable in the isopropanol test, and to have a normal oxygen affinity (2,3). In this paper we describe the occurrence of the variant in a Caucasian family.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
