Alpha-thalassemia

An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


Total: 2

                       


(per page)
PMID (PMCID)
24805811
 MIXED_SAMPLE Infant
Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation-c.109C>T (p.R37X).
Basehore MJ, Michaelson-Cohen R, Levy-Lahad E, Sismani C, Bird LM, Friez MJ, Walsh T, Abidi F, Holloway L, Skinner C, McGee S, Alexandrou A, Syrrou M, Patsalis PC, Raymond G, Wang T, Schwartz CE, King MC, Stevenson RE.
Clin Genet. 2015;87(5):461-6.
Alpha-thalassemia intellectual disability, one of the recognizable X-linked disability syndromes, is characterized by short stature, microcephaly, distinctive facies, hypotonic appearance, cardiac and genital anomalies, and marked skewing of X-inactivation in female carriers.
16231329
 FEMALE Adult
Vascular-type disruptive defects in fetuses with homozygous alpha-thalassemia: report of two cases and review of the literature.
Adam MP, Chueh J, El-Sayed YY, Stenzel A, Vogel H, Weaver DD, Hoyme HE.
Prenat Diagn. 2005;25(12):1088-96.
While microcephaly, hydrocephalus, and retarded brain growth have been rarely reported in association with homozygous alpha-thalassemia, this is the first report of a true brain malformation in an affected fetus.