PMID- 36210651
OWN - NLM
STAT- MEDLINE
DCOM- 20221102
LR  - 20221102
IS  - 1532-432X (Electronic)
IS  - 0363-0269 (Linking)
VI  - 46
IP  - 4
DP  - 2022 Jul
TI  - A Novel 5 kb Deletion in the beta-Globin Gene Cluster Identified in a Chinese 
      Patient.
PG  - 245-248
LID - 10.1080/03630269.2022.2118604 [doi]
AB  - beta-Thalassemia (beta-thal), a highly prevalent disease in tropical and subtropical 
      regions of Southern China, is caused mainly by point mutations in the beta-globin 
      gene cluster. However, large deletions have also been found to contribute to some 
      types of beta-thal. We identified a novel 5 kb deletion in the beta-globin cluster in a 
      Chinese patient using multiplex ligation-dependent probe amplification (MLPA), 
      and characterized it with single molecule real-time (SMRT) sequencing, 
      gap-polymerase chain reaction (gap-PCR) and Sanger sequencing. The deletion was 
      located between positions 5226189 and 5231091 on chromosome 11 (GRCh38), 
      extending from 4 kb upstream of the 5' untranslated region (5'UTR) to the second 
      intron of the beta-globin gene. The patient with this deletion presented with 
      microcytosis and hypochromic red cells, as well as relatively high Hb F and Hb 
      A(2) levels. Our research indicated that SMRT sequencing is a useful tool for 
      accurate detection of large deletions. Our study broadens the spectrum of 
      deletional beta-thalassemias and provides a perspective for further study of the 
      function of the beta-globin cluster.
FAU - Bao, Xiu-Qin
AU  - Bao XQ
AD  - Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, 
      Guangdong Province, People's Republic of China.
AD  - Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and 
      Children Hospital, Guangzhou, Guangdong Province, People's Republic of China.
AD  - Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, 
      Guangdong Province, People's Republic of China.
FAU - Wang, Ji-Cheng
AU  - Wang JC
AD  - Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, 
      Guangdong Province, People's Republic of China.
AD  - Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and 
      Children Hospital, Guangzhou, Guangdong Province, People's Republic of China.
AD  - Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, 
      Guangdong Province, People's Republic of China.
FAU - Qin, Dan-Qing
AU  - Qin DQ
AD  - Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, 
      Guangdong Province, People's Republic of China.
AD  - Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and 
      Children Hospital, Guangzhou, Guangdong Province, People's Republic of China.
AD  - Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, 
      Guangdong Province, People's Republic of China.
FAU - Yao, Cui-Ze
AU  - Yao CZ
AD  - Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, 
      Guangdong Province, People's Republic of China.
AD  - Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and 
      Children Hospital, Guangzhou, Guangdong Province, People's Republic of China.
AD  - Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, 
      Guangdong Province, People's Republic of China.
FAU - Liang, Jie
AU  - Liang J
AD  - Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, 
      Guangdong Province, People's Republic of China.
AD  - Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and 
      Children Hospital, Guangzhou, Guangdong Province, People's Republic of China.
AD  - Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, 
      Guangdong Province, People's Republic of China.
FAU - Du, Li
AU  - Du L
AD  - Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, 
      Guangdong Province, People's Republic of China.
AD  - Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and 
      Children Hospital, Guangzhou, Guangdong Province, People's Republic of China.
AD  - Thalassemia Diagnosis Center, Guangdong Women and Children Hospital, Guangzhou, 
      Guangdong Province, People's Republic of China.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20221009
PL  - England
TA  - Hemoglobin
JT  - Hemoglobin
JID - 7705865
RN  - 0 (beta-Globins)
SB  - IM
MH  - Humans
MH  - *beta-Globins/genetics
MH  - *beta-Thalassemia/diagnosis/genetics
MH  - Gene Deletion
MH  - Multigene Family
MH  - Multiplex Polymerase Chain Reaction
MH  - Sequence Deletion
OTO - NOTNLM
OT  - 5 kb novel deletion
OT  - elevated Hb F
OT  - single molecule real time (SMRT) sequencing
OT  - beta-Globin gene cluster
EDAT- 2022/10/11 06:00
MHDA- 2022/11/01 06:00
CRDT- 2022/10/10 02:52
PHST- 2022/10/11 06:00 [pubmed]
PHST- 2022/11/01 06:00 [medline]
PHST- 2022/10/10 02:52 [entrez]
AID - 10.1080/03630269.2022.2118604 [doi]
PST - ppublish
SO  - Hemoglobin. 2022 Jul;46(4):245-248. doi: 10.1080/03630269.2022.2118604. Epub 2022 
      Oct 9.