Human Phenotype Ontology 
Grandparent Node:
expandAbnormal erythrocyte morphology (HP:0001877)help
Parent Node:
expandAbnormal hemoglobin (HP:0011902)help
..Starting node
..expandHbH hemoglobin (HP:0011903)help
Term ID: 11903
Name: HbH hemoglobin
Synonym: Haemoglobin H; HbH haemoglobin; Hemoglobin H
Definition: Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia.
Comments:
Reference: HP:0011903
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal mean corpuscular hemoglobin concentration (HP:0025546) help
..expandElevated hemoglobin A1c (HP:0040217) help
..expandHbS hemoglobin (HP:0045047) help
..expandHemoglobin Barts (HP:0005507) help
..expandImbalanced hemoglobin synthesis (HP:0005560) help
..expandIncreased HbA2 hemoglobin (HP:0045048) help
..expandMethemoglobinemia (HP:0012119) help
..expandPersistence of hemoglobin F (HP:0011904) help
..expandReduced hemoglobin A (HP:0011905) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0011903HP:0011903HbH hemoglobin0ATRX CL E G H546886OMIM:300448ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS169
HP:0011903HP:0011903HbH hemoglobin0ATRX CL E G H546886ORPHA:231401Alpha-thalassemia-myelodysplastic syndromeHP:0040281 - Very frequent169
HP:0011903HP:0011903HbH hemoglobin0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0011903HP:0011903HbH hemoglobin0HBA1 CL E G H30394823ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040281 - Very frequent200
HP:0011903HP:0011903HbH hemoglobin0HBA1 CL E G H30394823OMIM:613978Hemoglobin H disease.200
HP:0011903HP:0011903HbH hemoglobin0HBA2 CL E G H30404824ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040281 - Very frequent88
HP:0011903HP:0011903HbH hemoglobin0HBA2 CL E G H30404824OMIM:613978Hemoglobin H disease.88


Genes (3) :ATRX HBA1 HBA2

Diseases (5) :OMIM:300448 ORPHA:231401 OMIM:301040 ORPHA:98791 OMIM:613978
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.