Frequency of Deletional α-Thalassemia Genotypes in a Predominantly Asian-American Population

Intrauterine Fetal Growth Restriction and Oligohydramnios of Undetermined Etiology

“…Intrauterine Fetal Growth Restriction encompasses HBA1 and HBA2 but spares HBZ. Approximately 5.4% of Southeast Asian descendants living in the US are carriers for the SEA deletion (10). The Southeast Asian population also has a high frequency of 3 large deletions that encompass HBZ as well as HBA1 and HBA2 in cis.…”

A universal carrier test for the long tail of Mendelian disease

“…Even this figure tends to understate the impact of Mendelian disease, as minority groups and inhabitants of developing countries have greater risks (Burchard et al, 2003;El-Hazmi, 1997;Need and Goldstein, 2009;Simeonsson, 1991;Zlotogora, 1994) that are not well described by average costs in the general population. For example, African Americans are far more likely to develop sickle cell anaemia (Lenker and Mills, 2005;National Heart, Lung, and Blood Institute, 1996), Asian Americans account for the majority of thalassaemia cases in America (Hofgärtner et al, 1997;Lau et al, 1997;Vichinsky et al, 2005), and more than one in four members of the Jewish community possess a recessive mutation for a known Mendelian disease (Goodman and Motulsky, 1979;Lehavi et al, 2003;Motulsky, 1995). Developing countries with high rates of consanguinity or endogamous marriage traditions (Zlotogora, 1994) are likewise disproportionately affected.…”

Rapid confirmation of Southeast Asian and Filipino α‐thalassemia genotypes from newborn screening specimens

“…Those of Asian descent now comprise 10% of all California births and also represent the population at highest risk for thalassemia [8]. Among people of Southeast Asian origin living in the United States, 5.4% of them were found to be carriers of the −− SEA deletion, whereas 1% were found to be carriers of the −− FIL deletion [9,10]. In California, state-sponsored universal newborn screening for hemoglobinopathies began in 1990 and includes detection of structural variants as well as ␤-thalassemia.…”