Germline mosaicism for an alanine to valine substitution at residue beta 140 in hemoglobin Puttelange, a new variant with high oxygen affinity.

Hb Puttelange [beta 140(H18)Ala-->Val] was found as a de novo mutation in two siblings of a French family suffering from polycythemia. Both parents were phenotypically normal and exclusion of paternity has been ruled out by the study of several polymorphic markers located on different chromosomes. The structural modification of Hb Puttelange was established by reversed-phase HPLC analysis of the tryptic digest of the abnormal chain.

Detection of haemoglobinopathies at birth in Togo.

The incidence and nature of haemoglobinopathies were investigated at birth in Togo, using isoelectric focussing on 385 samples of umbilical cord blood. Abnormalities were found in 37.6% of blood samples: Hb A/S, 18.

[Discovery of hemoglobin J Baltimore in an episode of methemoglobinemia in an infant].

A case of a heterozygote for Hb J Baltimore is reported in a French family. This variant hemoglobin was coincidentally discovered during an episode of methemoglobinemia in a 6-week-old baby. The father and one of the brothers were also carriers of the trait.

[Deformability of thawed erythrocytes: introduction of a new preservative solution].

Recently, KANE et al. (Centre de Transfusion Sanguine, Strasbourg) designed an original preservative medium, called ESOC, allowing a prolonged storage of thawed RBC. We studied on 15 days the evolution of thawed RBC deformability, while RBC where kept preserved, on the one hand in this ESOC solution, on the other hand in physiologic water, without any preservative medium.

[Hemoglobin E: report of the first 2 cases in French subjects].

Hemoglobin E has been discovered casually in the blood of two French donors: one coming from the Alsace region, the other one coming from the Champagne region. In the two cases, the hemoglobin E is in an heterozygote state and takes the place of 33 per cent of the total haemoglobin in the first and 24 per cent in the second. We investigated in their families and found that other members of these families had hemoglobin E.