First Association in Spain of Hb J Baltimore Alpha A2 Beta<sub>2</sub>16 (A13) GLY→asp and Beta° Thalassemia

StfURT COMMUNZCATZONS HB J-BALTIMORE [pl6(A13)GLY+ASP] ASSOCIATED WITH P+-THALASSEMIA IN A SPANISH FAMILYHb J-Baltimore is not exceptional in Spain, where four families with the heterozygous form have been described to date. One of these cases is a double heterozygote for Hb J-Baltimore and Po-thalassemia (thal) (1,2). Another five families with this combination have been described in the worldwide scientific literature (3,4). In the present paper we report hematological and biochemical data of a family with heterozygous Hb J-Baltimore in association with P+-thal.Two brothers, 14 and 12 years old, were referred to our department because of microcytosis. Physical examination was normal and, as remarkable antecedents in the family, we found microcytosis in the mother and the habit of drinking in the father. The hematological data of this family are shown in Table I.In both cellulose acetate electrophoresis at alkaline pH and isoelectrofocusing (IEF) with acrylamide gel, pH ranges 5.5-8.5, an abnormal band of hemoglobin (Hb) was present in cases 1-1, 11-1, and 11-2 (Fig. 1). Cellulose acetate electrophoresis at pH 6.0 (5) and reversed phase high performance liquid chromatography (HPLC) (6) separation of globin chains showed that the abnormality was located in the p chain.The quantitation of Hb A , by a microchromatographic procedure (5) indicated the presence of heterozygous P-thal in 1-2, 11-1, and 11-2. The isopropanol and heat instability tests were both negative. The quantitation of the abnormal Hb was made by ion exchange HPLC (7) (SynChropak CM300 column) (Fig. 2), which showed 87.2% Hb X in case 11-1 and 88.9% in case 11-2, with 7.7% Hb A in both brothers ( Table I).

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First Association in Spain of Hb J Baltimore Alpha A2 Beta₂16 (A13) GLY→asp and Beta° Thalassemia

Cited by 2 publications

References 10 publications

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Hb J-Baltimore [β16(A13)GLY→ASP] Associated with β⁺Thalassemia in a Spanish Family

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First Association in Spain of Hb J Baltimore Alpha A2 Beta216 (A13) GLY→asp and Beta° Thalassemia

Cited by 2 publications

References 10 publications

Hemoglobin J-Baltimore (β16(A13)Gly → Asp): Interference with the assay of HbA1c

Hemoglobin J-Baltimore (β16(A13)Gly → Asp): Interference with the assay of HbA1c

Hb J-Baltimore [β16(A13)GLY→ASP] Associated with β+Thalassemia in a Spanish Family

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First Association in Spain of Hb J Baltimore Alpha A2 Beta₂16 (A13) GLY→asp and Beta° Thalassemia

Hb J-Baltimore [β16(A13)GLY→ASP] Associated with β⁺Thalassemia in a Spanish Family