Anemia Attributed to Genetic Disorder: An Examination of AASE Syndrome

For many parents, the anticipation and arrival of a new baby is an exhilarating time in their lives. With proper prenatal care, the couple eagerly awaits the arrival of their new bundle of joy. For some parents, however, there is a risk their child will develop a genetic birth defect and, for that reason, prenatal genetic testing has become increasingly common.

Of the congenital birth defects, Aase syndrome, while rare, can lead to significant health complications. Unfortunately, because the two most common symptoms of Aase syndrome are not readily apparent, many parents do not realize their child suffers from the condition until several days or weeks after birth. For this reason, again, prenatal genetic testing is crucial to early warning.

While there are some less common symptoms of Aase syndrome, such as cleft palate, cleft lip, heart defect and even a narrowing of the shoulder development, children born with this rare congenital defect will all carry two symptoms in common. First, they must test positive for CHA which is the acronym used to describe the condition in which there is a marked decrease in the number of red blood cells. Second, the child must also suffer from a TPT, which is the acronym for a condition in which a deformity of the thumbs is present, resulting in the presence of three phalanges instead of two.

While Aase syndrome is extremely rare, with less than a couple dozen reported cases, it is believed there may be far more children who suffer from the condition. This lack of reporting in statistics may be attributed to, in part, a misdiagnosis and may, instead, be diagnosed with Blackfan-Diamond syndrome; another congenital defect of very similar symptoms.