Hereditary non-spherocytic haemolytic anaemia with post-splenectomy inclusion bodies and pigmenturia caused by an unstable haemoglobin Santa Ana-beta-88 (F4) leucine--proline.

Hemoglobin stability: observations on the denaturation of normal and abnormal hemoglobins by oxidant dyes, heat, and alkali

“…DISCUSSION The heme moieties of normal hemoglobin lie in nonpolar pockets formed by the folding of the globin chains and each porphyrin group makes approximately 60 contacts, mainly nonpolar, with the protein portion of the molecule (25). One covalent bond links the iron atom (19,23,(30)(31)(32)(33). Heme-free globin is unstable and precipitates rapidly at room temperature (34).…”

Hemoglobin Abraham Lincoln, β32 (B14) Leucine → Proline AN UNSTABLE VARIANT PRODUCING SEVERE HEMOLYTIC DISEASE

“…It is of interest that among the other leucine > proline variants in which heme binding is defective, in only one instance (45) has the abnormality occurred in more than a single family member.…”

The role of haemocytes in the biosynthesis of protocatechuate in the cockroach colleterial system

“…There are four unstable haemoglobins, however, present in smaller amounts, 15% or less of the total haemoglobin: Hb-BorAs, F4 Leu -* Arg (Hollender, Lorkin, Lehmann & Svensson, 1969); Hb-Santa Ana, F4 Leu -+ Pro (Opfell, Lorkin & Lehmann, 1968); Hb-Sabine, F7 Leu --Pro (Schneider, Veda, Alperin, Brimhall & Jones, 1969); Hb-Koln, FG5 Val --Met (Carrell, Lehmann & Hutchinson, 1966). In two patients heterozygous for Hb-Koln the relative rates of synthesis of the flK°ln-chain and PA-chain have been measured by incubation of their reticulocytes with [3H]leucine and measurement of the total incorporation of [3H]leucine into the two chains.…”