has mode of inheritance modified by modifies has causal genotype has causal or contributing genetic variation has manifestation has causal molecular phenotype Alpha Thalassemia Genotype Autosomal Recessive Anemia Imbalanced Hemoglobin Synthesis Thalassemia Constitutional Genetic Disorder Alpha Thalassemia Alpha-Thalassemia Curation completed by the SCDO curator team: Clair. MESH:D017085 Origa R, Moi P. Alpha-Thalassemia. 2005 Nov 1 [Updated 2016 Dec 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle 1993-2018. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1435/ Sufficient SCDO:0000042 A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted. A hemoglobinopathy with two clinically significant forms: hemoglobin Bart hydrops fetalis (deletion of all 4 alpha-globin genes; --/--) which is severe and often results in neonatal death; and hemoglobin H disease (most commonly caused by deletion of 3 alpha-globin genes; --/-alpha) which results in hemolytic anemia, splenomegaly and bone changes. http://purl.bioontology.org/ontology/MESH/D017085 Thalassemia Alpha A-Thalassemia Clinical Phenotype of Beta Thalassemia Phenotype of Sickle Cell Disease Reduced Alpha/Gamma Synthesis Ratio Alpha-Globin Locus Deletion