PMID- 28795619
OWN - NLM
STAT- MEDLINE
DCOM- 20180731
LR  - 20220317
IS  - 1532-432X (Electronic)
IS  - 0363-0269 (Linking)
VI  - 41
IP  - 3
DP  - 2017 May
TI  - Hematological and Molecular Characterization of a Novel Hb A(2) Variant with 
      Homozygous alpha-Thalassemia-2 in a Southern Thai Individual.
PG  - 213-215
LID - 10.1080/03630269.2017.1345760 [doi]
AB  - We report here the hematological and molecular features of a novel delta-globin chain 
      variant found in a Southern Thai woman. Her complete blood count was as follows: 
      red blood cell (RBC) count 5.90 x 10(12)/L, hemoglobin concentration (Hb) 
      12.6 g/dL, packed cell volume (PCV) 0.41 L/L, mean corpuscular volume (MCV) 69.5 
      fL, mean corpuscular Hb (MCH) 21.4 pg, mean corpuscular Hb concentration (MCHC) 
      30.7 g/dL and RBC distribution width (RDW) 13.1%. The blood smear demonstrated 
      microcytic hypochromic RBCs suggestive of thalassemia trait. Hemoglobin analysis 
      identified Hb A(2) + Hb A(2)-Kiriwong (2.4%) and Hb F (0.1%) on high performance 
      liquid chromatography (HPLC). To characterize the alpha-thalassemia (alpha-thal) 
      genotype, common alpha-thal-1 and alpha-thal-2 alleles were characterized by multiplex 
      gap-polymerase chain reaction (gap-PCR). The results revealed homozygous alpha-thal-2 
      (-alpha(3.7)/-alpha(3.7)) in this case. DNA sequencing showed the presence of a novel 
      delta-globin gene mutation [delta77(EF1)His-->Arg; HBD: c.233A>G] that we named Hb 
      A(2)-Kiriwong for the village from where the proband lived. In summary, the 
      presence of microcytic hypochromic RBCs in this case was likely the result of the 
      homozygous -alpha(3.7) (rightward) deletion and was not affected by this Hb A(2) 
      variant.
FAU - Nuinoon, Manit
AU  - Nuinoon M
AUID- ORCID: 0000-0002-1325-5489
AD  - a Human Genetics Research Unit, School of Allied Health Sciences , Walailak 
      University , Nakhon Si Thammarat , Thailand.
FAU - Jeenduang, Nutjaree
AU  - Jeenduang N
AD  - a Human Genetics Research Unit, School of Allied Health Sciences , Walailak 
      University , Nakhon Si Thammarat , Thailand.
FAU - Kesornsit, Aumpika
AU  - Kesornsit A
AD  - a Human Genetics Research Unit, School of Allied Health Sciences , Walailak 
      University , Nakhon Si Thammarat , Thailand.
FAU - Horpet, Dararat
AU  - Horpet D
AD  - b Center for Scientific and Technological Equipment , Walailak University , 
      Nakhon Si Thammarat , Thailand.
FAU - Plyduang, Thunyaluk
AU  - Plyduang T
AD  - b Center for Scientific and Technological Equipment , Walailak University , 
      Nakhon Si Thammarat , Thailand.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20170810
PL  - England
TA  - Hemoglobin
JT  - Hemoglobin
JID - 7705865
RN  - 0 (delta-Globins)
RN  - 9034-53-1 (Hemoglobin A2)
SB  - IM
MH  - Chromatography, High Pressure Liquid
MH  - DNA Mutational Analysis
MH  - Hemoglobin A2/chemistry/*genetics
MH  - *Homozygote
MH  - Humans
MH  - *Mutation
MH  - *Phenotype
MH  - Thailand
MH  - alpha-Thalassemia/*blood/diagnosis/*genetics
MH  - delta-Globins/*genetics
OTO - NOTNLM
OT  - Hb A2 variant
OT  - Southern Thai population
OT  - novel delta-globin gene mutation
EDAT- 2017/08/11 06:00
MHDA- 2018/08/01 06:00
CRDT- 2017/08/11 06:00
PHST- 2017/08/11 06:00 [pubmed]
PHST- 2018/08/01 06:00 [medline]
PHST- 2017/08/11 06:00 [entrez]
AID - 10.1080/03630269.2017.1345760 [doi]
PST - ppublish
SO  - Hemoglobin. 2017 May;41(3):213-215. doi: 10.1080/03630269.2017.1345760. Epub 2017 
      Aug 10.