Congenital Atransferrinemia

Description

Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.

Clinical Features

Top most frequent phenotypes and symptoms related to Congenital Atransferrinemia

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fatigue
  • Congestive heart failure
  • Recurrent infections
  • Pneumonia
  • Hypothyroidism
  • Arthritis
  • Pallor

And another 9 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Congenital Atransferrinemia Is also known as hypotransferrinemia, familial, congenital hypotransferrinemia.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Congenital Atransferrinemia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hyperferritinemia Panel.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

SEC23B, SLC40A1, TF, TFR2, HAMP, CDAN1, CP, STEAP3, SLC25A38, ALAS2, FTH1, FTL, HFE, HJV, B2M
Specificity
7 %
Genes
100 %
ATRANSFERRINEMIA.

By BLOODGENETICS BLOODGENETICS (Spain).

TF
Specificity
100 %
Genes
100 %
NGS Panel for Iron related Anemias (including Aceruloplasminemia, Atransferrinemia, IRIDA, DMT1-deficiency =AHMIO1, Hypochromic microcytic anemia with iron overload 2=AHMIO2).

By BLOODGENETICS BLOODGENETICS (Spain).

SLC11A2, TF, TMPRSS6, ACVR1, CP, STEAP3, ATP4A, ATP7B
Specificity
13 %
Genes
100 %
TF.

By Fulgent Genetics Fulgent Genetics (United States).

TF
Specificity
100 %
Genes
100 %
Comprehensive Hematology Panel.

By Blueprint Genetics (Finland).

RHAG, RIT1, RPL11, RPL15, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS29, RPS7, RUNX1, BLM, SEC23B, SFTPB, SFTPC, SH2D1A, SLC19A2, BRAF , (...)

View the complete list with 218 more genes
Specificity
1 %
Genes
100 %
Anemia Panel.

By Blueprint Genetics (Finland).

RHAG, RPL11, RPL15, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS29, RPS7, BLM, SEC23B, SLC19A2, BRCA2, SPTA1, SPTB, TCN2, TF, THBD , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Atransferrinemia , Sequencing TF Gene.

By Reference Laboratory Genetics (Spain).

TF
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

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