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Inherited microcytic anemias.
Cappellini MD, Russo R, Andolfo I, Iolascon A. Cappellini MD, et al. Hematology Am Soc Hematol Educ Program. 2020 Dec 4;2020(1):465-470. doi: 10.1182/hematology.2020000158. Hematology Am Soc Hematol Educ Program. 2020. PMID: 33275715 Free PMC article. Review.
Besides the very common microcytic anemia due to acquired iron deficiency, a range of hereditary abnormalities that result in actual or functional iron deficiency are now being recognized. Atransferrinemia, DMT1 deficiency, ferroportin disease, and iron-refractory iron def …
Besides the very common microcytic anemia due to acquired iron deficiency, a range of hereditary abnormalities that result in actual or func …
Non-HFE hepatic iron overload.
Pietrangelo A, Caleffi A, Corradini E. Pietrangelo A, et al. Semin Liver Dis. 2011 Aug;31(3):302-18. doi: 10.1055/s-0031-1286061. Epub 2011 Sep 7. Semin Liver Dis. 2011. PMID: 21901660 Free article. Review.
Other much rarer genetic disorders are associated with hepatic iron load, but the clinical picture is usually dominated by symptoms and signs due to failure of other organs (e.g., anemia in atransferrinemia or neurologic defects in aceruloplasminemia). Finally, in the cont …
Other much rarer genetic disorders are associated with hepatic iron load, but the clinical picture is usually dominated by symptoms and sign …
A new case of congenital atransferrinemia with a novel splice site mutation: c.293-63del.
Dabboubi R, Amri Y, Yahyaoui S, Mahjoub R, Sahli CA, Sahli C, Hadj Fredj S, Bibi A, Sammoud A, Messaoud T. Dabboubi R, et al. Eur J Med Genet. 2020 May;63(5):103874. doi: 10.1016/j.ejmg.2020.103874. Epub 2020 Feb 3. Eur J Med Genet. 2020. PMID: 32028041
Congenital atransferrinemia is an extremely rare autosomal recessive disorder resulting in the complete absence or extremely reduced amount of transferrin. In this study, we describe the first case of congenital atransferrinemia in Tunisia and the 18th patient in th …
Congenital atransferrinemia is an extremely rare autosomal recessive disorder resulting in the complete absence or extremely reduced …
Studies on familial hypotransferrinemia: unique clinical course and molecular pathology.
Hayashi A, Wada Y, Suzuki T, Shimizu A. Hayashi A, et al. Am J Hum Genet. 1993 Jul;53(1):201-13. Am J Hum Genet. 1993. PMID: 8317485 Free PMC article.
Some unsolved problems--late onset of anemia and growth retardation (at age 7 years), healthy siblings showing very low transferrin (TF) level, and unexplained mode of inheritance--were found in family members of a congenital atransferrinemia already reported in 1972. The …
Some unsolved problems--late onset of anemia and growth retardation (at age 7 years), healthy siblings showing very low transferrin (TF) lev …
Severe hypochromic microcytic anemia in a patient with congenital atransferrinemia.
Shamsian BS, Rezaei N, Arzanian MT, Alavi S, Khojasteh O, Eghbali A. Shamsian BS, et al. Pediatr Hematol Oncol. 2009 Jul-Aug;26(5):356-62. doi: 10.1080/08880010902973251. Pediatr Hematol Oncol. 2009. PMID: 19579082
Congenital atransferrinemia or hypotransferrinemia is a very rare autosomal recessive disorder, characterized by a deficiency of transferrin, resulting in hypochromic, microcytic anemia and hemosiderosis. ...The serum level of transferrin was decreased. The diagnosis of …
Congenital atransferrinemia or hypotransferrinemia is a very rare autosomal recessive disorder, characterized by a deficiency of tran …