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Atransferrinemia

MedGen UID:
105489
•Concept ID:
C0521802
•
Disease or Syndrome
Synonym: Familial hypotransferrinemia
SNOMED CT: Congenital atransferrinaemia (111571009); Congenital atransferrinemia (111571009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): TF (3q22.1)
 
HPO: HP:0012239
Monarch Initiative: MONDO:0008846
OMIM®: 209300
Orphanet: ORPHA1195

Definition

Absence of transferrin, a protein that transports iron, in the blood. [from HPO]

Clinical features

From HPO
Congestive heart failure
MedGen UID:
9169
•Concept ID:
C0018802
•
Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
See: Feature record | Search on this feature
Abnormality of the liver
MedGen UID:
893061
•Concept ID:
C4021780
•
Finding
An abnormality of the liver.
See: Feature record | Search on this feature
Hypochromic anemia
MedGen UID:
8065
•Concept ID:
C0002884
•
Disease or Syndrome
A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes.
See: Feature record | Search on this feature
Atransferrinemia
MedGen UID:
105489
•Concept ID:
C0521802
•
Disease or Syndrome
Absence of transferrin, a protein that transports iron, in the blood.
See: Feature record | Search on this feature
Show allHide all

Conditions with this feature

Atransferrinemia
MedGen UID:
105489
•Concept ID:
C0521802
•
Disease or Syndrome
Absence of transferrin, a protein that transports iron, in the blood.
See: Condition Record
Atransferrinemia

Recent clinical studies

Etiology

Addition of oral iron to plasma transfusion in human congenital hypotransferrinemia: A 10-year observational follow-up with the effects on hematological parameters and growth.
Aslan D
Pediatr Blood Cancer 2018 Feb;65(2) Epub 2017 Sep 12 doi: 10.1002/pbc.26789. PMID: 28895280
Severe hypochromic microcytic anemia in a patient with congenital atransferrinemia.
Shamsian BS, Rezaei N, Arzanian MT, Alavi S, Khojasteh O, Eghbali A
Pediatr Hematol Oncol 2009 Jul-Aug;26(5):356-62. doi: 10.1080/08880010902973251. PMID: 19579082

Diagnosis

Inherited microcytic anemias.
Cappellini MD, Russo R, Andolfo I, Iolascon A
Hematology Am Soc Hematol Educ Program 2020 Dec 4;2020(1):465-470. doi: 10.1182/hematology.2020000158. PMID: 33275715Free PMC Article
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
Eur J Med Genet 2020 May;63(5):103874. Epub 2020 Feb 3 doi: 10.1016/j.ejmg.2020.103874. PMID: 32028041
Addition of oral iron to plasma transfusion in human congenital hypotransferrinemia: A 10-year observational follow-up with the effects on hematological parameters and growth.
Aslan D
Pediatr Blood Cancer 2018 Feb;65(2) Epub 2017 Sep 12 doi: 10.1002/pbc.26789. PMID: 28895280
Hereditary hypotransferrinemia can lead to elevated transferrin saturation and, when associated to HFE or HAMP mutations, to iron overload.
Beaumont-Epinette MP, Delobel JB, Ropert M, Deugnier Y, Loréal O, Jouanolle AM, Brissot P, Bardou-Jacquet E
Blood Cells Mol Dis 2015 Feb;54(2):151-4. Epub 2014 Nov 26 doi: 10.1016/j.bcmd.2014.11.020. PMID: 25486930
Non-HFE hepatic iron overload.
Pietrangelo A, Caleffi A, Corradini E
Semin Liver Dis 2011 Aug;31(3):302-18. Epub 2011 Sep 7 doi: 10.1055/s-0031-1286061. PMID: 21901660

Therapy

Addition of oral iron to plasma transfusion in human congenital hypotransferrinemia: A 10-year observational follow-up with the effects on hematological parameters and growth.
Aslan D
Pediatr Blood Cancer 2018 Feb;65(2) Epub 2017 Sep 12 doi: 10.1002/pbc.26789. PMID: 28895280
Non-HFE hepatic iron overload.
Pietrangelo A, Caleffi A, Corradini E
Semin Liver Dis 2011 Aug;31(3):302-18. Epub 2011 Sep 7 doi: 10.1055/s-0031-1286061. PMID: 21901660
Severe hypochromic microcytic anemia in a patient with congenital atransferrinemia.
Shamsian BS, Rezaei N, Arzanian MT, Alavi S, Khojasteh O, Eghbali A
Pediatr Hematol Oncol 2009 Jul-Aug;26(5):356-62. doi: 10.1080/08880010902973251. PMID: 19579082
Molecular characterization of a case of atransferrinemia.
Beutler E, Gelbart T, Lee P, Trevino R, Fernandez MA, Fairbanks VF
Blood 2000 Dec 15;96(13):4071-4. PMID: 11110675
A family of congenital atransferrinemia.
Goya N, Miyazaki S, Kodate S, Ushio B
Blood 1972 Aug;40(2):239-45. PMID: 4625559

Prognosis

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
Eur J Med Genet 2020 May;63(5):103874. Epub 2020 Feb 3 doi: 10.1016/j.ejmg.2020.103874. PMID: 32028041
Addition of oral iron to plasma transfusion in human congenital hypotransferrinemia: A 10-year observational follow-up with the effects on hematological parameters and growth.
Aslan D
Pediatr Blood Cancer 2018 Feb;65(2) Epub 2017 Sep 12 doi: 10.1002/pbc.26789. PMID: 28895280
Non-HFE hepatic iron overload.
Pietrangelo A, Caleffi A, Corradini E
Semin Liver Dis 2011 Aug;31(3):302-18. Epub 2011 Sep 7 doi: 10.1055/s-0031-1286061. PMID: 21901660
Molecular characterization of a case of atransferrinemia.
Beutler E, Gelbart T, Lee P, Trevino R, Fernandez MA, Fairbanks VF
Blood 2000 Dec 15;96(13):4071-4. PMID: 11110675
Studies on familial hypotransferrinemia: unique clinical course and molecular pathology.
Hayashi A, Wada Y, Suzuki T, Shimizu A
Am J Hum Genet 1993 Jul;53(1):201-13. PMID: 8317485Free PMC Article

Clinical prediction guides

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
Eur J Med Genet 2020 May;63(5):103874. Epub 2020 Feb 3 doi: 10.1016/j.ejmg.2020.103874. PMID: 32028041
Addition of oral iron to plasma transfusion in human congenital hypotransferrinemia: A 10-year observational follow-up with the effects on hematological parameters and growth.
Aslan D
Pediatr Blood Cancer 2018 Feb;65(2) Epub 2017 Sep 12 doi: 10.1002/pbc.26789. PMID: 28895280
Molecular characterization of a case of atransferrinemia.
Beutler E, Gelbart T, Lee P, Trevino R, Fernandez MA, Fairbanks VF
Blood 2000 Dec 15;96(13):4071-4. PMID: 11110675
Studies on familial hypotransferrinemia: unique clinical course and molecular pathology.
Hayashi A, Wada Y, Suzuki T, Shimizu A
Am J Hum Genet 1993 Jul;53(1):201-13. PMID: 8317485Free PMC Article

Supplemental Content

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