An abnormal hemoglobin, Hb Owari [alpha 121 (H 4) Val----Met], was discovered in seven Japanese. This variant was isoelectrofocused to the site between the Hb A and Hb F bands and amounted to 12.7-19.0% of the total hemoglobin in the hemolysate. This hemoglobin showed normal functional properties.

A new abnormal hemoglobin, Hb Mito [β144(HC 1)Lys → Glu], with an amino acid substitution in the 2,3‐DPG pocket, was discovered in a Japanese female. This hemoglobin showed increased oxygen affinity, and decreased organic phosphate and Bohr effects, while the Hill constant n was normal.

Hb Handa, an abnormal hemoglobin which isoelectrofocused anodally to Hb A, was found in a 15-year-old Japanese girl and her mother, who were apparently healthy. Clinical and hematological examinations showed no abnormality in individual heterozygous for this mutant gene except for a slight increase of reticulocyte count (2.1-2.4%). Structural studies disclosed an alpha chain anomaly and substitution of alpha 90 (FG 2) Lys replaced by Met. The content of the abnormal hemoglobin in the hemolysate was 17.5-18.3% of the hemoglobin. The isopropanol precipitation test was negative. The purified abnormal hemoglobin showed a slightly higher oxygen affinity than that of Hb A, but Hill's n constant, Bohr effect and organic phosphate effect were within the normal range. Globin chain biosynthesis in reticulocytes indicated that the production rate of the abnormal alpha chain was suppressed to 38% of the normal level.

(1982). Hemoglobin Camden (β131 (H 9) Gln a Glu) the Second Instance in Japan. Hemoglobin: Vol. 6, No. 4, pp. 427-432.

Hemoglobin Sabine (α2β2 91 leu → pro) comprises 8 per cent of the hemoglobin of a 16-year-old Scotch-English-German girl who has suffered from hemolytic anemia since infancy. The spleen was removed at 18 months. She has about 9 gm of hemoglobin per 100 ml, of which 12 percent is fetal, and a red-cell count of 2,500,000, with many reticulocytes and erythrocytic inclusions readily demonstrable on fluorescence microscopy. The erythrocyte half-time measured with 51Cr is four days. Hemoglobin Sabine is deficient in heme-binding capacity, is easily converted to methemoglobin and precipitates readily on mild heating or storage. Replacement of the leucine by a proline residue at β 91 in the helical position F 7 evidently disrupts the helical sequence of the globin molecule at a point adjacent to its chief heme contact. Hemoglobin Sabine probably arose as a mutation in the proposita.

Data are presented on two Caucasian families with hemoglobin D Los Angeles, (α2β2121gln) In one family, the mother, of Spanish origin, has sickle cell trait and the father, of Mexican origin, has hemoglobin D trait. One child has sickle cell hemoglobin D disease and suffers from a moderately severe hemolytic anemia. In the other family, of English, Scotch, and Irish ancestry, one member has the hemoglobin DAF pattern of hemoglobin D β-thalassemia disease and suffers from moderate hemolytic disease.