OBJECTIVE: To analyze the hematological characteristics of patients with three common deletional β-thalassemia and concomitant α-thalassemia in Huizhou, Guangdong province. METHODS: A total of 1 335 subjects of childbearing age with hemoglobin F (Hb F) ≥ 5% at the Huizhou First Maternal and Child Health Care Hospital between June 2014 and December 2023 were enrolled as our study cohort. The hematological parameters were determined by blood cell counters and automatic capillary electrophoresis, while liquid phase chip and gap-PCR were employed for the detection of routine thalassemias and the three common deletional β-thalassemia, respectively. The hematological characteristics of patients with the deletional β-thalassemia were analyzed. This study was reviewed and approved by the Ethics Committee of Huizhou First Maternal and Child Health Care Hospital [Ethics No. 20231107(B2)]. RESULTS: A total of 384 cases of the three common deletional β-thalassemia were identified, including 184 cases of Chinese Gγ⁺(Aγδβ)⁰, 191 cases of Southeast Asian hereditary persistence of fetal hemoglobin (SEA-HPFH), and nine cases of Chinese Taiwanese, for a total detection rate of 28.76%. Patients who did not meet the established criteria were excluded from the study, leaving 372 cases. All of which presented with hypochromic microcytic anemia and significantly elevated Hb F. Except for normal or decreasing of Hb A2 levels in patients with Chinese Gγ⁺(Aγδβ)⁰, the levels of Hb A2 in patients with the other two deletional β-thalassemia were increased with different degrees. Differential comparison results showed that significant differences were observed in Hb A2 and Hb F values among the groups of the three common deletional β-thalassemia heterozygotes (P < 0.05). According to the type of gene variation, 180 patients with Chinese Gγ⁺(Aγδβ)⁰ heterozygotes were divided into three groups, including αα/αα, Chinese Gγ⁺(Aγδβ)⁰/β^N (149), -α/αα, Chinese Gγ⁺(Aγδβ)⁰/β^N (14), and --/αα, Chinese Gγ⁺(Aγδβ)⁰/β^N (17). Similarly, 179 patients with SEA-HPFH heterozygotes were divided into three groups, including αα/αα, SEA-HPFH/β^N (150), -α/αα, SEA-HPFH/β^N (12), and --/αα, SEA-HPFH/β^N (17). Differential comparison results showed that the Hb F levels of the Chinese Gγ⁺(Aγδβ)⁰ combined with α⁰-thalassemia group were significantly lower than those of the Chinese Gγ⁺(Aγδβ)⁰ combined with α⁺-thalassemia group and the control group (P < 0.05). The mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and Hb F values of the SEA-HPFH combined with α⁰-thalassemia group were significantly lower than those of the SEA-HPFH combined with α⁺-thalassemia group and the control group (P < 0.05). CONCLUSION The above research results can not only enhance the ability of clinicians to identify deletional β-thalassemia and concomitant α-thal, improve the level of genetic counseling, but also provide data support for the development of deletional β-thalassemia prevention and control programme and the development of prenatal and postnatal care.
Humans ; beta-Thalassemia/complications* ; alpha-Thalassemia/complications* ; Female ; China ; Male ; Adult ; Fetal Hemoglobin/genetics* ; Adolescent ; Young Adult

OBJECTIVE: To report on a case with homozygous deletion of large β gene cluster and its clinical characteristics. METHODS: A total of 71 001 peripheral blood samples were subjected to capillary electrophoresis and conventional testing for common thalassemia mutations. The genotypes of suspected β gene cluster deletions were analyzed by Gap-PCR and multiplex ligation-dependent probe amplification (MLPA). Their hematological characteristics were compared by statistical analysis R software. RESULTS: Eighty-nine cases were detected with Chinese CONCLUSION The carrier rate for large fragment deletions of β gene cluster in Huizhou region is rather high, for which the value of HbF is significantly increased. Attention should be paid to screening and diagnosis of rare genotype to prevent missed diagnosis and/or misdiagnosis.
Gene Deletion ; Homozygote ; Humans ; Multigene Family/genetics* ; Phenotype ; beta-Thalassemia/genetics*

OBJECTIVETo explore hematological and molecular characteristics of Hemoglobin Q-Thailand in Huizhou area of Guangdong Province.

METHODSA total of 34 977 samples were screened by capillary and agarose gel electrophoresis. Samples suspected with HbQ strips were subjected to blood cell count and DNA sequencing. Twenty three common mutations associated with α- and β-thalassemia were identified by liquid phase chip and diversion hybridization technique.

RESULTSThe carrier rate of Hb Q-Thailand in Huizhou area was 0.13%. Pedigree analysis indicated that the Hb Q-Thailand allele is linked with a leftward single a-globin gene deletion (-α). Hematological index (HGB, MCV, MCH, HbA, HbA, HbQ) of 45 heterozygous carriers of Hb Q-Thailand were (130.25±17.37) g/L, (79.81±4.97) fl, (26.38±1.48) pg, (71.37±5.07)%, (1.65±0.45)%, (26.87±4.95)%, respectively. A statistical difference was also found in their hematological index of HbA and HbA compared with 408 heterozygous carriers of -α mutation (P<0.05).

CONCLUSIONHb Q-Thailand has a high detection rate in Huizhou area. The allele is mainly in a heterozygous status and linked with -α. The Hb Q strip can be detected by hemoglobin electrophoresis. When combined with other types of thalassemia, the heterozygotes will show unique hematological parameters.

Objective To observe the serum cortisol level in ischemic stroke patients with obstructive sleep apnea syndrome (OSAS),and discuss the influence factors and its correlation with severity of cerebral infarction.Methods Two hundred ischemic stroke patients with onset of 6 h to 3 weeks,admitted to our hospital from July 2015 to April 2017,were recruited;all patients were monitored with polysomnography.According to apnea hypopnea index (AHI),all patients were divided into ischemic stroke without OSAS group (AHI＜5/h,n=89) and ischemic stroke with OSAS group (AHI≥ 5/h,n=111).Moreover,according to AHI,patients from ischemic stroke with OSAS group were divided into three subgroups,namely,mild subgroup (5/h ≤AHI＜15/h),moderate subgroup (15/h ≤AHI＜30/h) and severe subgroup (AHI ≥30/h).According to National Institutes of Health Stroke Scale (NIHSS) scores,all subjects were divided into a group of NIHSS scores no more than 10 and a group of NIHSS scores＞10.The general clinical data,biochemical indices,early morning blood pressure,serum cortisol level and sleeping parameters were detected and compared among the groups,and the main factors affecting serum cortisol levels were identified by multivariate linear regression analysis.Results (1) The serum cortisol level in ischemic stroke with OSAS patients ([195.41±75.31] μg/L) was significantly higher than that of ischemic stroke without OSAS patients ([158.65±77.28] μg/L,P＜0.05);the serum cortisol level in ischemic stroke with mild OSAS subgroup ([227.32±75.12] μg/L) was significantly increased as compared with that in the ischemic stroke with moderate OSAS subgroup and ischemic stroke with severe OSAS subgroup ([191.27±71.50] μg/L and [175.21±75.13] μg/L,P＜0.05).(2) The serum cortisol level of group of NIHSS scores＞10 was significantly higher than that of group of NIHSS scores ≤ 10 (P＜0.05).(3)AHI,NIHSS scores,longest duration of apnea,and lowest blood oxygen saturation at night had significant effects on serum cortisol levels.Serum cortisol levels increased with AHI (β=89.984,95％CI:71.325-108.644,P=0.000) and NIHSS scores (β=0.923,95％CI:0.377-1.468,P=0.001),increased with the longest sleep apnea (β=0.804,95％CI:0.262-1.325,P=0.000),and decreased with the lowest blood oxygen saturation at night (β=-0.709,95％CI:-0.290--0.041,P=0.000).Conclusion The serum cortisol level in cerebral infarction patients with OSAS was increased,and the higher the severity of cerebral infarction and OSAS is,the higher the serum cortisol level is.

Objective To investigate the composing characteristics and drug resistances of pathogens isolated from genital tracts in premature rupture of membranes of obstetrics from 2012 to 2014 ,for instructing clinical application of antibiotics reasonably . Methods A retrospective investigation analysis was made for all the isolated bacteria from genital tracts specimens as well as their drug resistances from 2012 to 2014 .Results The results shows that 598 strains of bacterial pathogens were isolated from 2000 detected samples ,The infection rate of bacterial pathogens was 29 .90% .The top four bacteria pathogens were E .coli(31 .44% ) ,Can . albicans(20 .90% ) ,Str .agalactiae(19 .23% ) and Sta .aureus(10 .03% ) .E .coli and Sta .aureus were highly resistant to commonly used antibiotics and demonstrated multi‐drug resistance .Str .agalactiae and Can .albicans were lowly resistant to commonly used antibiotics .Conclusion Inspecting pathogens and studying the composition of pathogens and the trend of their drug resistance are im ‐ portant to rationally select antibiotics ,decrease the occurrence of drug resistant strains in perinatal period ,and control the outbreak and prevalence of nosocomial infection .