Cyanosis, Transient Neonatal; Tncy

Description

Neonatal cyanosis is characterized by symptoms in the fetus and neonate that gradually abate by 5 to 6 months of age. The disorder is caused by a defect in the fetal hemoglobin chain, which causes reduced affinity for oxygen due to steric inhibition of oxygen binding and/or due to increased oxidation of the fetal hemoglobin molecule to methemoglobin (Hb FM), which has decreased oxygen-binding capacity. Some patients develop anemia resulting from increased destruction of red cells containing abnormal or unstable hemoglobin. The cyanosis resolves spontaneously by 5 to 6 months of age or earlier, as the adult beta-globin chain (HBB ) is produced and replaces the fetal gamma-globin chain (summary by Crowley et al., 2011).

Clinical Features

Phenotypes and symptoms related to Cyanosis, Transient Neonatal; Tncy

  • Anemia
  • Hepatomegaly
  • Jaundice
  • Cyanosis
  • Reticulocytosis
  • Methemoglobinemia

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

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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Cyanosis, Transient Neonatal; Tncy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Beta Globin (HBB) Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

HBB, HBD, HBE1, HBG1, HBG2
Specificity
20 %
Genes
100 %
Hereditary Persistance of Fetal Hemoglobin - HBG1 and HBG2 Sequence Analysis of G-Gamma and A-Gamma Globin Genes.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

HBG1, HBG2
Specificity
50 %
Genes
100 %
Hereditary Persistance of Fetal Hemoglobin - HBG1 and HBG2 Known Point Mutation Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

HBG1, HBG2
Specificity
50 %
Genes
100 %
Hereditary persistence of fetal hemoglobin.

By Centogene AG - the Rare Disease Company (Germany).

HBG2
Specificity
100 %
Genes
100 %
Cyanosis, transient neonatal.

By Centogene AG - the Rare Disease Company (Germany).

HBG2
Specificity
100 %
Genes
100 %
Gamma globin gene sequencing.

By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland (United States).

HBG1, HBG2
Specificity
50 %
Genes
100 %
MLPA (Multiplex Ligation-Dependent Probe Amplification) for ?-globin gene cluster.

By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland (United States).

HBB, HBD, HBG1, HBG2
Specificity
25 %
Genes
100 %
Multiplex Gap PCR for HPFH and Hb Lepore (Hollandia, Washington- Boston, Baltimore).

By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland (United States).

HBB, HBD, HBG1, HBG2
Specificity
25 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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