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Constitutional anemia due to iron metabolism disorder

MedGen UID:
1842741
•Concept ID:
C5681718
•
Disease or Syndrome
Orphanet: ORPHA98360

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVConstitutional anemia due to iron metabolism disorder

Recent clinical studies

Etiology

Nutritional anaemia dysregulates endocrine control of fetal growth.
Mahajan S, Aalinkeel R, Shah P, Singh S, Gupta N, Kochupillai N
Br J Nutr 2008 Aug;100(2):408-17. Epub 2008 Feb 13 doi: 10.1017/S000711450889438X. PMID: 18272016
Serum ferritin and anemia in trained female athletes.
Ashenden MJ, Martin DT, Dobson GP, Mackintosh C, Hahn AG
Int J Sport Nutr 1998 Sep;8(3):223-9. doi: 10.1123/ijsn.8.3.223. PMID: 9738132
Bone mineral density in prepubertal children with beta-thalassemia: correlation with growth and hormonal data.
Soliman AT, El Banna N, Abdel Fattah M, ElZalabani MM, Ansari BM
Metabolism 1998 May;47(5):541-8. doi: 10.1016/s0026-0495(98)90237-2. PMID: 9591744
Iron nutritional status is improved in Brazilian preterm infants fed food cooked in iron pots.
Borigato EV, Martinez FE
J Nutr 1998 May;128(5):855-9. doi: 10.1093/jn/128.5.855. PMID: 9566993

Diagnosis

Momelotinib (JAK1/JAK2/ACVR1 inhibitor): mechanism of action, clinical trial reports, and therapeutic prospects beyond myelofibrosis.
Tefferi A, Pardanani A, Gangat N
Haematologica 2023 Nov 1;108(11):2919-2932. doi: 10.3324/haematol.2022.282612. PMID: 36861402Free PMC Article
Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin.
Mojzikova R, Koralkova P, Holub D, Saxova Z, Pospisilova D, Prochazkova D, Dzubak P, Horvathova M, Divoky V
Blood Cells Mol Dis 2018 Mar;69:23-29. Epub 2017 Apr 14 doi: 10.1016/j.bcmd.2017.04.003. PMID: 28803808
Bone mineral density in prepubertal children with beta-thalassemia: correlation with growth and hormonal data.
Soliman AT, El Banna N, Abdel Fattah M, ElZalabani MM, Ansari BM
Metabolism 1998 May;47(5):541-8. doi: 10.1016/s0026-0495(98)90237-2. PMID: 9591744

Therapy

Momelotinib (JAK1/JAK2/ACVR1 inhibitor): mechanism of action, clinical trial reports, and therapeutic prospects beyond myelofibrosis.
Tefferi A, Pardanani A, Gangat N
Haematologica 2023 Nov 1;108(11):2919-2932. doi: 10.3324/haematol.2022.282612. PMID: 36861402Free PMC Article
Iron status in 2-year-old Icelandic children and associations with dietary intake and growth.
Gunnarsson BS, Thorsdottir I, Palsson G
Eur J Clin Nutr 2004 Jun;58(6):901-6. doi: 10.1038/sj.ejcn.1601910. PMID: 15164111
Bone mineral density in prepubertal children with beta-thalassemia: correlation with growth and hormonal data.
Soliman AT, El Banna N, Abdel Fattah M, ElZalabani MM, Ansari BM
Metabolism 1998 May;47(5):541-8. doi: 10.1016/s0026-0495(98)90237-2. PMID: 9591744
Iron nutritional status is improved in Brazilian preterm infants fed food cooked in iron pots.
Borigato EV, Martinez FE
J Nutr 1998 May;128(5):855-9. doi: 10.1093/jn/128.5.855. PMID: 9566993

Prognosis

Serum ferritin and anemia in trained female athletes.
Ashenden MJ, Martin DT, Dobson GP, Mackintosh C, Hahn AG
Int J Sport Nutr 1998 Sep;8(3):223-9. doi: 10.1123/ijsn.8.3.223. PMID: 9738132
Iron nutritional status is improved in Brazilian preterm infants fed food cooked in iron pots.
Borigato EV, Martinez FE
J Nutr 1998 May;128(5):855-9. doi: 10.1093/jn/128.5.855. PMID: 9566993

Clinical prediction guides

Two novel mutations (p.(Ser160Pro) and p.(Arg472Cys)) causing glucose-6-phosphate isomerase deficiency are associated with erythroid dysplasia and inappropriately suppressed hepcidin.
Mojzikova R, Koralkova P, Holub D, Saxova Z, Pospisilova D, Prochazkova D, Dzubak P, Horvathova M, Divoky V
Blood Cells Mol Dis 2018 Mar;69:23-29. Epub 2017 Apr 14 doi: 10.1016/j.bcmd.2017.04.003. PMID: 28803808
Nutritional anaemia dysregulates endocrine control of fetal growth.
Mahajan S, Aalinkeel R, Shah P, Singh S, Gupta N, Kochupillai N
Br J Nutr 2008 Aug;100(2):408-17. Epub 2008 Feb 13 doi: 10.1017/S000711450889438X. PMID: 18272016
Bone mineral density in prepubertal children with beta-thalassemia: correlation with growth and hormonal data.
Soliman AT, El Banna N, Abdel Fattah M, ElZalabani MM, Ansari BM
Metabolism 1998 May;47(5):541-8. doi: 10.1016/s0026-0495(98)90237-2. PMID: 9591744
Iron nutritional status is improved in Brazilian preterm infants fed food cooked in iron pots.
Borigato EV, Martinez FE
J Nutr 1998 May;128(5):855-9. doi: 10.1093/jn/128.5.855. PMID: 9566993

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