Haemoglobin Stanleyville II (<i>α</i> 78 [EF 7] Asn → Lys) Found in France

Abstract

Haemoglobin Stanleyville II has been found several times in individuals from Central Africa.S This paper now reports its discovery in Alsace, in a family of long-standîng local ancestry.

Mutations in the paralogous human α-globin genes yielding identical hemoglobin variants

“… – N.A. [ 12 ] Hb Stanleyville-II French 6 Normal Normal – – 24 – [ 36 ] Hb Stanleyville-II Caucasian 1 11.0 88 – 15.3 – – This report Hb Stanleyville-II African 1 14.1 90 – 11.1 – 42.7 This report p.D94N (c.283G>A) Hb Titusville Swedish/Finish 1 13.3 91 – 15.6 – – 1.13 [ 37 ] Hb Titusville Swedish/Finish 1 13.6 88 – 16 – – [ 37 ] Hb Titusville Scottish 1 15.8 85.9 17 – – – [ 38 ] Hb Titusville Scottish 1 14.5 91 11 – – – [ 38 ] Hb Titusville Scottish 1 Normal Normal 14 – – – …”

Haemoglobin (Hb) G‐Philadelphia, Hb Stanleyville‐II, Hb G‐Norfolk, Hb Matsue‐Oki and Hb Mizushi can form a panel of α‐chain variants that overlap in their phenotype: the novel use of StyI to screen for Hb G‐Philadelphia

“…, 1975; Lorkin et al. , 1975); Hb Stanleyville‐II has been reported in families of African ethnic origin from the Congo, Uganda, Zaire, Texas (USA), and Alsace (France) (Van Ros, Beale & Lehmann, 1968; North et al. , 1975).…”

“…Four other a-chain variants with a similar phenotype to Hb G-Philadelphia were identified by DNA sequencing: Hb G-Norfolk, Hb Stanleyville-II, Hb Matsue-Oki and Hb Mizushi. Hb G-Norfolk has been found in a few English families in England and Canada (Cohen-Solal et al, 1975;Lorkin et al, 1975); Hb Stanleyville-II has been reported in families of African ethnic origin from the Congo, Uganda, Zaire, Texas (USA), and Alsace (France) (Van Ros, Beale & Lehmann, 1968;North et al, 1975). Hb Matsue-Oki is reported to be found in a few Japanese and families of Arican ethnic origin (Ohba et al, 1977;Moo-Penn, Johnson & Therrell, 1978).…”

Hemoglobin (Hb) Stanleyville II Causes Gross Overestimation of the Hb A1c Proportion in Routine HPLC

“…Bearers of Hb Stanleyville II are clinically normal. Hb Stanleyville II is not uncommon in some regions of Africa, but has only once been reported in a family of European descent (5 ). The index patient is of German origin.…”