PMID- 32720864
OWN - NLM
STAT- MEDLINE
DCOM- 20210119
LR  - 20210119
IS  - 1607-8454 (Electronic)
IS  - 1024-5332 (Linking)
VI  - 25
IP  - 1
DP  - 2020 Dec
TI  - Analysis of rare thalassemia caused by HS-40 regulatory site deletion.
PG  - 286-291
LID - 10.1080/16078454.2020.1799587 [doi]
AB  - ABSTRACT Objectives: To investigate the effect of HS-40 regulatory site deletion 
      on alpha-globin gene expression and its clinical significance. Methods: Venous blood 
      samples of subjects were analyzed using a hematology analyzer and high- 
      performance liquid chromatography; fetal cord blood was analyzed by a capillary 
      electrophoresis analyzer. Gap-polymerase chain reaction (PCR), reverse dot blot 
      (RDB), and multiple-link-dependent probe amplification (MLPA) were used for 
      genotyping of thalassemia. Results: The proband was POLR3 K, HS-40 heterozygous 
      deletion; the proband's wife was -SEA/alphaalpha; the fetus was POLR3 K, HS-40 
      heterozygous deletion combined with -SEA deletion; all of them had microcytic 
      hypochromic anemia. Fetal umbilical cord blood electrophoresis revealed a 
      suspected Hb Bart's band to be 88.4%, and the fetus was, thus, diagnosed as Hb 
      Bart's fetus. The red blood cell parameters of the sporadic case showed that he 
      had microcytic hypochromic anemia. Hemoglobin (Hb) electrophoresis analysis 
      showed Hb H to be 5.3%, leading to a diagnosis of Hb H disease. Gap-PCR and RDB 
      identified the genotype to be -alpha3.7/alphaalpha, beta(A)/beta(A). MLPA detected heterozygous 
      deletion or -alpha3.7 deletion on one allele and deletion of the HS-40 regulatory 
      site on the other allele. Conclusion: The deletion of HS-40 regulatory site 
      reduced expression of alpha-globin. HS-40 heterozygous deletion manifested as mild 
      anemia, which was of microcytic hypochromic type. When compounded with -alpha3.7/alphaalpha, 
      it manifested as Hb H disease; and when compounded with -SEA/alphaa, it manifested as 
      Hb Bart's fetus.
FAU - Luo, Shiqiang
AU  - Luo S
AD  - Department of Medical Genetics, Liuzhou Maternal and Child Health Hospital, 
      Liuzhou, People's Republic of China.
FAU - Chen, Xingyuan
AU  - Chen X
AD  - Department of Laboratory Medicine, Guangxi Zhuang Autonomous Region People's 
      Hospital, Nanning, People's Republic of China.
FAU - Zhong, Qingyan
AU  - Zhong Q
AD  - Department of Medical Genetics, Liuzhou Maternal and Child Health Hospital, 
      Liuzhou, People's Republic of China.
FAU - Wang, Qiuhua
AU  - Wang Q
AD  - Department of Medical Genetics, Liuzhou Maternal and Child Health Hospital, 
      Liuzhou, People's Republic of China.
FAU - Xu, Zehui
AU  - Xu Z
AD  - Department of Medical Genetics, Liuzhou Maternal and Child Health Hospital, 
      Liuzhou, People's Republic of China.
FAU - Qin, Liuqun
AU  - Qin L
AD  - Department of Medical Genetics, Liuzhou Maternal and Child Health Hospital, 
      Liuzhou, People's Republic of China.
FAU - Wang, Jingren
AU  - Wang J
AD  - Department of Medical Genetics, Liuzhou Maternal and Child Health Hospital, 
      Liuzhou, People's Republic of China.
FAU - Yuan, Dejian
AU  - Yuan D
AD  - Department of Medical Genetics, Liuzhou Maternal and Child Health Hospital, 
      Liuzhou, People's Republic of China.
FAU - Yan, Tizhen
AU  - Yan T
AD  - Department of Medical Genetics, Liuzhou Maternal and Child Health Hospital, 
      Liuzhou, People's Republic of China.
FAU - Tang, Ning
AU  - Tang N
AD  - Department of Medical Genetics, Liuzhou Maternal and Child Health Hospital, 
      Liuzhou, People's Republic of China.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Hematology
JT  - Hematology (Amsterdam, Netherlands)
JID - 9708388
RN  - 0 (Hemoglobins, Abnormal)
RN  - 0 (alpha-Globins)
RN  - 9056-09-1 (hemoglobin Bart's)
SB  - IM
MH  - Adult
MH  - Alleles
MH  - Anemia, Hypochromic/diagnosis/genetics
MH  - Base Sequence
MH  - Female
MH  - Hemoglobins, Abnormal/chemistry/*genetics
MH  - Heterozygote
MH  - Humans
MH  - Male
MH  - Pedigree
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - Sequence Deletion
MH  - alpha-Globins/chemistry/*genetics
MH  - alpha-Thalassemia/*diagnosis/genetics
OTO - NOTNLM
OT  - Family pedigree analysis
OT  - HS-40
OT  - Hb Bart's fetus
OT  - Hb H
OT  - People's Republic of China
OT  - Phenotype
OT  - Thalassemia
OT  - rare type of thalassemia
EDAT- 2020/07/29 06:00
MHDA- 2021/01/20 06:00
CRDT- 2020/07/29 06:00
PHST- 2020/07/29 06:00 [entrez]
PHST- 2020/07/29 06:00 [pubmed]
PHST- 2021/01/20 06:00 [medline]
AID - 10.1080/16078454.2020.1799587 [doi]
PST - ppublish
SO  - Hematology. 2020 Dec;25(1):286-291. doi: 10.1080/16078454.2020.1799587.