PMID- 28641501
OWN - NLM
STAT- MEDLINE
DCOM- 20171219
LR  - 20171219
IS  - 1532-432X (Electronic)
IS  - 0363-0269 (Linking)
VI  - 41
IP  - 2
DP  - 2017 Mar
TI  - Hematological Characterizations and Molecular Diagnostic Aspects of Hb Wiangpapao 
      [alpha44(CE2)Pro-->Ser (alpha1), CCG>TCG; HBA1: c.133C>T], a New alpha-Globin Variant Found in 
      a Pregnant Thai Woman.
PG  - 73-76
LID - 10.1080/03630269.2017.1338185 [doi]
AB  - We report the hematological parameters and provide a rapid molecular analysis 
      method for detection of Hb Wiangpapao [alpha44(CE2)Pro-->Ser, CCG>TCG; HBA1: c.133C>T], 
      a new alpha-globin variant found in a pregnant Thai woman. Her red cell indices were 
      measured by an automated blood counter. The results were: red blood cell (RBC) 
      count 4.03 x 10(12)/L, Hb 13.1 (g/dL), packed cell volume (PCV) 0.39 L/L, mean 
      corpuscular volume (MCV) 97.0 fL, mean corpuscular hemoglobin (Hb) (MCH) 32.5 pg, 
      mean corpuscular Hb concentration (MCHC) 33.4 g/dL, and RBC distribution width 
      (RDW) 9.4%. The Hb typing by high performance liquid chromatography (HPLC) showed 
      13.6% abnormal Hb at a retention time of 2.20 min. that was difficult to 
      distinguish from Hb A. On the capillary electrophoresis (CE) electropherogram, 
      this hemoglobinopathy peak did not separate from the Hb A peak. DNA sequencing 
      showed a C>T transition at the first position of codon 44 (CCG>TCG) of the 
      alpha1-globin gene that led to a substitution of proline for serine. This mutation 
      has not been recorded in the public databases. Therefore, we named it Hb 
      Wiangpapao as it was first discovered in the Wiangpapao District, Chiang Rai, 
      Thailand. The multiplex allele-specific polymerase chain reaction (ASPCR) for 
      detection of Hb Wiangpapao was developed and revealed a 510 bp specifically 
      amplified fragment. The better understanding of hematological characterizations 
      and the newly developed multiplex ASPCR for diagnosis of Hb Wiangpapao are useful 
      for genetic counseling and family education.
FAU - Panyasai, Sitthichai
AU  - Panyasai S
AD  - a Department of Medical Technology , School of Allied Health Sciences, University 
      of Phayao , Phayao , Thailand.
FAU - Pornprasert, Sakorn
AU  - Pornprasert S
AD  - b Department of Medical Technology, Faculty of Associated Medical Sciences , 
      Chiang Mai University , Chiang Mai , Thailand.
LA  - eng
PT  - Clinical Trial
PT  - Journal Article
DEP - 20170623
PL  - England
TA  - Hemoglobin
JT  - Hemoglobin
JID - 7705865
RN  - 0 (Hemoglobins, Abnormal)
SB  - IM
MH  - Female
MH  - Hemoglobins, Abnormal/*genetics
MH  - Humans
MH  - *Mutation
MH  - Pregnancy
MH  - Pregnancy Complications, Hematologic/*genetics
MH  - Thailand
OTO - NOTNLM
OT  - Capillary electrophoresis (CE)
OT  - Hb Wiangpapao
OT  - Hematological parameters
OT  - Hemoglobinopathy
OT  - high performance liquid chromatography (HPLC)
EDAT- 2017/06/24 06:00
MHDA- 2017/12/20 06:00
CRDT- 2017/06/24 06:00
PHST- 2017/06/24 06:00 [pubmed]
PHST- 2017/12/20 06:00 [medline]
PHST- 2017/06/24 06:00 [entrez]
AID - 10.1080/03630269.2017.1338185 [doi]
PST - ppublish
SO  - Hemoglobin. 2017 Mar;41(2):73-76. doi: 10.1080/03630269.2017.1338185. Epub 2017 
      Jun 23.