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erythrocytosis, familial, 7 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

erythrocytosis, familial, 7

MONDO:0054802

Also known as:erythrocytosis 7ECYT7erythrocytosis, Alpha-globin type

Overview

GeneticsAutosomal dominant · 2 genes (HBA1, HBA2)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Increased circulating hemoglobin concentration, Increased hematocrit, and Polycythemia.

Organ System	Phenotype Count	Example Features
Blood and immune system	1	Increased circulating hemoglobin concentration
Lab test results

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

HBA1

HBA1 encodes hemoglobin subunit alpha 1 (142 aa). Involved in oxygen transport from the lung to the various peripheral tissues Highest expression in Whole Blood (15,499 TPM) and Spleen (90.4 TPM).

Erythrocytosis, familial, 7 has been associated with mutations in the HBA1 gene on chromosome 16.

HBA1 is classified as a druggable target with score 8.7.

HBA2

HBA2 encodes hemoglobin subunit alpha 2 (142 aa). Involved in oxygen transport from the lung to the various peripheral tissues Highest expression in Whole Blood (80,864 TPM) and Spleen (944.8 TPM).

Erythrocytosis, familial, 7 has limited evidence linking it to mutations in the HBA2 gene on chromosome 16.

HBA2 is classified as a druggable target with score 8.7.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Alpha-thalassemia (-thalassemia) has two clinically significant forms: hemoglobin Bart hydrops fetalis (Hb bart) syndrome (deletion/inactivation of all four alpha globin [-globin] alleles;--/--), and hemoglobin H (HbH) disease (most frequently caused by deletion/inactivation of three -globin alleles;--/-) . Hb Bart syndrome should be suspected in the following:

An at-risk fetus with increased nuchal thickness, thickened placenta, increased cerebral media artery velocity, and increased cardiothoracic ratio on ultrasonography examination at 13-14 weeks' gestation

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for erythrocytosis, familial, 7. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

In 2017, the Thalassemia International Federation updated its Guidelines for the Management of Non-Transfusion-Dependent Thalassemia, including beta-thalassemia (-thalassemia) intermedia, HbH disease, and hemoglobin E/-thalassemia .

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with alpha-thalassemia (-thalassemia), the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended. Hemoglobin Bart hydrops fetalis (Hb Bart) syndrome. See .

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

HbH disease

Hematologic evaluation every six to 12 months to determine the steady state levels of Hb
In children, assessment of growth and development every six to 12 months
Monitoring of iron load with annual determination of serum ferritin concentration in individuals who have been transfused, in older individuals, and in those given inappropriate iron supplementation. Since serum ferritin may underestimate the degree of iron overload, a periodic noninvasive quantitative measurement of liver iron concentration by MRI is also recommended .

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for erythrocytosis, familial, 7.

114 publications have been identified in PubMed for erythrocytosis, familial, 7. Research spans Epidemiology / Natural History (27%), Clinical Trial Publication (20%), and Review / Meta-Analysis (19%).

Research Type	Count	% of Total
Disease patterns and progression	31	27%

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617981

Questions for Your Care Team

→Should I pursue genetic testing for the associated genes, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

erythrocytosis, familial, 7

Overview

Clinical Presentation

Genetic Landscape

HBA1

HBA2

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Differential Diagnosis

Hydrops Fetalis

Hemoglobin H (HbH) Disease

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Characterization of a Newly Discovered Non-Coding Variant in the EPO Gene Identified in Two Unrelated Italian Pedigrees With Erythrocytosis.

erythrocytosis, familial, 7

Overview

Clinical Presentation

Genetic Landscape

HBA1

HBA2

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Differential Diagnosis

Hydrops Fetalis

Hemoglobin H (HbH) Disease

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Characterization of a Newly Discovered Non-Coding Variant in the EPO Gene Identified in Two Unrelated Italian Pedigrees With Erythrocytosis.