The diagnosed cases of Congenital Atransferrinemia vary worldwide considering an inherited autosomal recessive, ranging from 0.395 to 0.43 per 1,000,000 in the USA and congenital hypotransferrinemia affected approximately 0.00022 in 10,000 people in the European Union (EU). CA appears to be the most ultra-rare disease reported globally. In the EU the total number of diagnosed cases is ~55, due to a lack of disease awareness and diagnosis patients may be diagnosed or misdiagnosed.
Comprehensive insight on patient segmentation based on age, sex, Clinical Manifestations (fatigue, anorexia, irritability, tachycardia, systolic murmur, and pallor) has been provided into the epidemiology (Incidence and Prevalence) section of the Congenital Atransferrinemia and its treatment in the 8 MM countries, covering the Unit-ed States, EU5 (Germany, Spain, France, Italy, UK), Japan, and China.
In terms of pharmacologic therapies, only one asset is under development Human apo transferrin; Sanquin Plasma Products BV. Transferrins represent a class of proteins found in biological fluids of all vertebrates and invertebrates with the property of reversi-bly binding iron. At the iron-binding site, four of the six Fe3+ coordination sites are occupied by the protein ligands (2 tyrosine, 1 histidine, and 1 aspartate residue) and two by the bidentate carbonate anion. Human transferrin is a single polypeptide chain containing 679 amino acid residues with 19 disulfide bridges.
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