Hereditary atransferrinemia
- Hereditary atransferrinemia
- A genetic disorder in which there is absence of transferrin, a plasma protein that transports iron through the blood. Atransferrinemia is characterized by anemia and hemosiderosis (iron deposition) in the heart and liver. The iron damage to the heart can lead to heart failure. The anemia is typically microcytic and hypochromic (the red blood cells are abnormally small and pale). The disease is inherited as an autosomal recessive trait. It is due to mutation of both of a person's transferrin genes. The gene is in chromosome band 3q21. Atransferrinemia can be treated effectively by plasma infusions of transferrin.
Medical dictionary.
2011.
Look at other dictionaries:
3-я хромосома человека — Идиограмма 3 й хромосомы человека 3 я хромосома человека одна из 23 человеческих хромосом, одна из 22 аутосом человека. Хромосома содержит почти 200 млн пар оснований … Википедия
Iron overload — Micrograph of haemosiderosis. Liver biopsy. Iron stain. ICD 10 R … Wikipedia
Wilson's disease — Classification and external resources A Kayser Fleischer ring (the brown ring on the edge of the iris) is common in Wilson s disease, especially when neurological symptoms are present ICD … Wikipedia
Transferrin — A plasma protein that transports iron through the blood to the liver, spleen and bone marrow. The blood transferrin level is tested for diverse reasons: to determine the cause of anemia, to examine iron metabolism (for example, in iron deficiency … Medical dictionary
Chromosome 3 (human) — Short and long arms Chromosome 3 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 3 spans almost 200 million base pairs (the building material of DNA) and represents about 6.5 percent … Wikipedia
Occipital horn syndrome — Classification and external resources OMIM 304150 DiseasesDB 33413 Occipital horn syndrome (OHS), formerly considered a variant of Eh … Wikipedia
Epidermodysplasia verruciformis — Classification and external resources OMIM 226400 305350 DiseasesDB 31394 … Wikipedia
Reference Daily Intake — The Reference Daily Intake or Recommended Daily Intake (RDI) is the daily intake level of a nutrient that is considered to be sufficient to meet the requirements of 97–98% of healthy individuals in every demographic in the United States (where it … Wikipedia
Disorders of calcium metabolism — Classification and external resources Calcium ICD 10 E … Wikipedia
Calcinosis cutis — Classification and external resources ICD 10 L94.2 ICD 9 709.3 … Wikipedia
