Hemoglobin, High Altitude Adaptation; Halah

Description

Individuals with high altitude adaptation hemoglobin can survive in extremely hypoxic conditions without an increase in hematocrit or the development of erythrocytosis or polycythemia vera (summary by Lorenzo et al., 2014).

Clinical Features

Phenotypes and symptoms related to Hemoglobin, High Altitude Adaptation; Halah

  • Abnormality of blood and blood-forming tissues
  • Polycythemia

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.

Alternative names

Hemoglobin, High Altitude Adaptation; Halah Is also known as hemoglobin, high oxygen saturation of.

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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Hemoglobin, High Altitude Adaptation; Halah Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Erythrocytosis Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

BPGM, EGLN1, VHL, EPAS1, EPOR, HBA1, HBA2, HBB, JAK2
Specificity
12 %
Genes
100 %
Hereditary Pheochromocytoma and Paraganglioma Panel.

By Genetic Services Laboratory University of Chicago (United States).

SDHA, SDHB, SDHC, SDHD, EGLN1, VHL, KIF1B, SDHAF2, TMEM127, EPAS1, MAX, MEN1, NF1, RET
Specificity
8 %
Genes
100 %
Erythrocytosis familial, 3 (sequence analysis of EGLN1 gene).

By CGC Genetics (Portugal).

EGLN1
Specificity
100 %
Genes
100 %
Pheochromocytoma and paraganglioma (NGS panel for 16 genes).

By CGC Genetics (Portugal).

SDHA, SDHB, SDHC, SDHD, EGLN1, VHL, KIF1B, SDHAF2, TMEM127, FH, GDNF, MAX, MEN1, NF1, PRKAR1A, RET
Specificity
7 %
Genes
100 %
Pheochromocytoma and paraganglioma (NGS panel for 16 genes).

By CGC Genetics (Portugal).

SDHA, SDHB, SDHC, SDHD, EGLN1, VHL, KIF1B, SDHAF2, TMEM127, FH, GDNF, MAX, MEN1, NF1, PRKAR1A, RET
Specificity
7 %
Genes
100 %
Erythrocytosis, familial type 3.

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

EGLN1
Specificity
100 %
Genes
100 %
Erythrocytes, Anemia Panel.

By CeGaT GmbH (Germany).

RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, SEC23B, SPTA1, SPTB, EGLN1, LPIN2, AMN, COX4I2, CDAN1, CUBN, C15orf41, SH2B3 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
NGS Panel for Congenital Erythrocythosis or Familiar Polycythemia.

By BLOODGENETICS BLOODGENETICS (Spain).

BPGM, EGLN1, VHL, SH2B3, EPAS1, EPOR, JAK2
Specificity
15 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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