PCR-based diagnosis of the Filipino (??FIL) and Thai (??THAI) ?-thalassemia-1 deletions

Abstract

In southeast Asia, the carrier frequency of two-gene ␣-thalassemia deletions is quite high, ranging from 4% to 14% depending on the population. The most common ␣-thalassemia-1 deletion is the so-

High Prevalence of Alpha- and Beta-Thalassemia in the Kadazandusuns in East Malaysia: Challenges in Providing Effective Health Care for an Indigenous Group

“…The Filipino (- - FIL ) and Thai (- - THAI ) α -thalassemia deletions were determined using separate assays [9]. The Filipino-specific deletion was amplified as a 597-bp fragment and the Thai-specific deletion as a 480-bp fragment.…”

Hemoglobin H disease: not necessarily a benign disorder

“…More recently, Gap-polymerase chain reaction (PCR) methods have been developed for many of the common deletions. [115][116][117] In large deletions that remove the complete -␣-globin gene cluster, the diagnosis is more difficult and often depends on family studies and Southern blotting analysis using probes distal to the deletional breakpoints. 118,119 For point mutations, or small deletion/insertion mutations, the diagnosis is often based on direct nucleotide sequencing of the PCR-amplified product of either ␣2-or ␣1-globin gene.…”

Hemoglobin H (Hb H) disease in Canada: Molecular diagnosis and review of 116 cases

“…Several of the most common two-gene cis deletions were identified using the polymerase chain reaction (PCR) [23] and deletion-specific primer sets. These included the southeast Asian (− [24,25]. Non-deletion ␣-thalassemia determinants were identified by PCR amplification of the ␣2-and ␣1-globin genes [26] followed by direct nucleotide sequencing of the PCR products [27] or allele-specific dot-blot hybridization [28].…”