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| Atransferrinemia |
| Classification and external resources |
| ICD-9-CM |
273.8 |
| OMIM |
209300 |
| DiseasesDB |
29538 |
Atransferrinemia, also called familial hypotransferrinemia,[1] is an autosomal recessive[2] metabolic disorder in which there is an absence of transferrin, a plasma protein that transports iron through the blood.
Atransferrinemia is characterized by anemia and hemosiderosis 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). Atransferrinemia is extremely rare, with only eight cases documented worldwide.[3]
Contents
- 1 Symptoms
- 2 Genetics
- 3 Treatment
- 4 References
- 5 External links
Symptoms
Severe microcytic hypochromic anemia, growth retardation and recurrent infections are the first clinical signs of the disease. Iron overload occurs mainly in the liver, heart, pancreas, thyroid, kidney and bone joints, leading to mild to severe symptoms of liver and heart failure, arthropathy and hypothyroidism. Death may occur due to heart failure or pneumonia.[citation needed]
Genetics
Atransferrinemia has an autosomal recessive pattern of inheritance, meaning both copies of the gene in each cell are defective.
A case study was done in 1961 on a 7-year-old girl who died of heart failure with atransferrinemia. The half-normal levels of transferrin in her parents' bloodstream supported the notion that this disorder is transferred in an autosomal recessive pattern.[4] Atransferrinemia was reported in only eight patients in six families as of the year 2000. A lack of scientific data and public outreach, however, have suggested that there is a higher number of current cases. Researchers used the first known case reported in the United States[5] and identified mutations in the TF gene as a probable cause of the disorder.
Treatment
Treatment with infusions of plasma or purified apotransferrin may stabilise or correct the anemia and growth defects.
References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 209300
- ^ Hamill, Rl; Woods, Jc; Cook, Ba (August 1991). "Congenital atransferrinemia. A case report and review of the literature". American journal of clinical pathology 96 (2): 215–8. ISSN 0002-9173. PMID 1862777.
- ^ Aslan, D; Crain, K; Beutler, E (2007). "A new case of human atransferrinemia with a previously undescribed mutation in the transferrin gene". Acta haematologica 118 (4): 244–7. doi:10.1159/000112726. PMID 18097132.
- ^ Heilmeyer, L; Keller, W; Vivell, O; Keiderling, W; Betke, K; Woehler, F; Schultze, He (September 1961). "Congenital atransferrinemia in a 7-year-old girl" (FREE FULL TEXT). Deutsche Medizinische Wochenschrift (in German) 86 (37): 1745–51. doi:10.1055/s-0028-1113001. ISSN 0012-0472. PMID 13906010.
- ^ Beutler, E; Gelbart, T; Lee, P; Trevino, R; Fernandez, Ma; Fairbanks, Vf (15 December 2000). "Molecular characterization of a case of atransferrinemia" (FREE FULL TEXT). Blood 96 (13): 4071–4. ISSN 0006-4971. PMID 11110675.
External links
- WedMD's Concise Definition
- Elaborate Explanation of Symptoms and Genetic Inheritance
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Inborn error of metal metabolism (E83, 275)
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|
| Transition metal |
| Fe |
| high: |
- Primary iron overload disorder: Hemochromatosis/HFE1
- Juvenile/HFE2
- HFE3
- African iron overload/HFE4
- Aceruloplasminemia
- Atransferrinemia
- Hemosiderosis
|
|
| deficiency: |
|
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| Cu |
| high: |
- Copper toxicity
- Wilson's disease
|
|
| deficiency: |
- Copper deficiency
- Menkes disease/Occipital horn syndrome
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|
|
| Zn |
| high: |
|
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| deficiency: |
- Acrodermatitis enteropathica
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|
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| Electrolyte |
| Na+ and K+ |
- see Template:Water-electrolyte imbalance and acid-base imbalance
|
|
| PO43− |
| high: |
|
|
| deficiency: |
- Hypophosphatemia
- alkaline phosphatase
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|
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| Mg2+ |
|
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| Ca2+ |
| high: |
- Hypercalcaemia
- Milk-alkali syndrome (Burnett's)
- Calcinosis (Calciphylaxis, Calcinosis cutis)
- Calcification (Metastatic calcification, Dystrophic calcification)
- Familial hypocalciuric hypercalcemia
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|
| deficiency: |
- Hypocalcaemia
- Osteomalacia
- Pseudohypoparathyroidism (Albright's hereditary osteodystrophy)
- Pseudopseudohypoparathyroidism
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|
|
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Index of nutrition
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|
| Description |
- Vitamins
- Cofactors
- Metal metabolism
- Fats
- metabolism
- intermediates
- lipoproteins
- Sugars
- Glycolysis
- Glycogenesis and glycogenolysis
- Fructose and galactose
|
|
| Disease |
- Vitamins
- Carbohydrate
- Lipid
- Metals
- Other
- Symptoms and signs
|
|
| Treatment |
- Drugs
- Vitamins
- Mineral supplements
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English Journal
- Hepatocyte divalent metal-ion transporter-1 is dispensable for hepatic iron accumulation and non-transferrin-bound iron uptake in mice.
- Wang CY1, Knutson MD.
- Hepatology (Baltimore, Md.).Hepatology.2013 Aug;58(2):788-98. doi: 10.1002/hep.26401. Epub 2013 Jul 1.
- Divalent metal-ion transporter-1 (DMT1) is required for iron uptake by the intestine and developing erythroid cells. DMT1 is also present in the liver, where it has been implicated in the uptake of transferrin-bound iron (TBI) and non-transferrin-bound iron (NTBI), which appears in the plasma during
- PMID 23508576
- Known and potential roles of transferrin in iron biology.
- Bartnikas TB1.
- Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine.Biometals.2012 Aug;25(4):677-86. doi: 10.1007/s10534-012-9520-3.
- Transferrin is an abundant serum metal-binding protein best known for its role in iron delivery. The human disease congenital atransferrinemia and animal models of this disease highlight the essential role of transferrin in erythropoiesis and iron metabolism. Patients and mice deficient in transferr
- PMID 22294463
- Non-HFE hepatic iron overload.
- Pietrangelo A1, Caleffi A, Corradini E.
- Seminars in liver disease.Semin Liver Dis.2011 Aug;31(3):302-18. doi: 10.1055/s-0031-1286061. Epub 2011 Sep 7.
- Numerous clinical entities have now been identified to cause pathologic iron accumulation in the liver. Some are well described and have a verified hereditary basis; in others the genetic basis is still speculative, while in several cases nongenetic iron-loading factors are apparent. The non- HFE he
- PMID 21901660
Japanese Journal
- A Case of Atransferrinemia and 35 Cases of Hypotransferrinemia as Detected by Radioassay of Total Iron-binding Capacity of the Serum
- Saito Hiroshi [他]
- Japanese Journal of Medicine 16(4), p342-348, 1977-10
- NAID 40005320277
- 家族性がみられたcongenital atransferrinemia(血漿蛋白 グロブリンの化学と病態生理 特集)
Related Links
- Atransferrinemia is an extremely rare genetic disorder characterized by low levels of healthy,functional red cells in the blood (hypochromic,microcytic anemia) and by the accumulation of excess iron in the body ...
- The symptoms and severity of atransferrinemia vary from one person to another depending upon the specific location and extent of iron accumulation in the body. Some individuals may develop mild symptoms, others may develop ...
Related Pictures
★リンクテーブル★
[★]
- 英
- atransferrinemia
- 同
- 低トランスフェリン血症 hypotransferrinemia
[★]
先天性無トランスフェリン血症