Hämoglobin-M-Homburg

Abstract

Haemoglobin M is a rare cause of congenital cyanosis and is usually misdiagnosed as being due to congenital heart disease. This was also the case in a family on whom this report is based. In five members of three generations the characteristic grey-blue cyanosis was due to a haemoglobin M anomaly. In all of them cardiopulmonary disease, anaemia and haemolysis had been excluded. The amino-acid substitution was in the alpha-chain of the globin molecule. Consequently the carriers of the trait have an abnormal haemoglobin content of 20-25%. Despite marked cyanosis they feel well.

Structural studies and cytotoxicity assays of “aggregation‐prone” IAPP8–16 and its non‐amyloidogenic variants suggest its important role in fibrillogenesis and cytotoxicity of human amylin

“…20,21 Destruction of the b cells results in a decrease in production of insulin and IAPP causing type 2 diabetes (T2D). 22,23 Extensive biophysical and computational studies have indicated that short sequence fragments with high aggregation propensity may promote the amyloidogenic propensity of a protein. 15,16 Numerous, extensive studies focused on "aggregation-prone" segments have been performed in the case of hIAPP.…”