[Analysis of HKαα Genotype and Hematological Characteristics in South Guangxi].

OBJECTIVE: To investigate the detection rate and hematologic phenotype of HKαα thalassemia in south Guangxi, in order to provide reference for the prevention and control of thalassemia and prenatal and postnatal care consultation in this region. METHODS: Gene testing was performed on pre-marital medical examinations, pre-pregnancy eugenic health examinations, prenatal examinations and hospitalized thalassemia-positive persons in south of Guangxi, and the results were analyzed. RESULTS: A total of 183 190 thalassemia patients were included in this study, the age was mainly concentrated in 26-35 years old (101 709 cases, accounting for 55.521%), and 40 HKαα mutations were detected, detection rate was 0.022%, including 5 cases in Nanning, 22 cases in Qinzhou, 2 cases in Fangchenggang, 11 cases in Beihai. A total of 29 ethnic groups were included in the survey, but HKαα gene was observed only in Han nationality (0.0380%) and Zhuang nationality (0.0068%). A total of 8 genotypes carrying HKαα mutations were detected in this study ( HKαα/--SEA, ßN/ ßN, HKαα/αα, ß-28/ ßN, HKαα/αα, ß-50/ ßN, HKαα/αα, ßCD17/ ßN, HKαα/αα, ßCD27/28/ß N, HKαα/αα, ßCD41-42/ ßN, HKαα/αα, ßCD71-72/ ßN, and HKαα/αα, ßN/ ßN). Except for most cases with HKαα/αα, ßN/ ßN genotypes with no significant changes in the hematological indexes, mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) of other genotypes were decreased, showing microcytic hypochromic performance, mild anemia or no anemia. CONCLUSION: HKαα carrier is often misdiagnosed as -α3.7 carrier, which easily leads to missed diagnosis or misdiagnosis. Therefore, it is necessary to continuously improve the diagnostic level of laboratory testing personnels and genetic counselors to avoid unnecessary interventional puncture operations and birth of children with moderate and severe thalassemia.

[Association Analysis between Genotype and Phenotype of α,ß-Thalassaemia Carriers in Huizhou Area of Guangdong Province].

OBJECTIVE: To analyze the prevalence, genotype distribution and hematological characteristics of α,ß-thalassaemia carriers in Huizhou area of Guangdong Province. METHODS: 10 809 carriers of simple ß-thalassaemia and 1 757 carriers of α,ß-thalassaemia were enrolled as our study cohort. The hematological parameters were detected by automated blood cell counters and automatic capillary electrophoresis. Suspension array technology, gap-polymerase chain reaction (gap-PCR) and PCR-reverse dot blot were used for the genotyping of thalassaemia carriers. RESULTS: The prevalence of α,ß-thalassaemia in Huizhou area of Guangdong Province was 1.99%. A total of 62 genotypes were detected, and the most prevalent genotype was --SEA/ αα, ßCD41-42/ ßN (19.29%), the next was --SEA/ αα, ßIVS-II-654/ ßN (16.73%). Significant differences in mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) were found between different genotype groups for simple ß-thalassaemia and α,ß-thalassaemia. Violin plots showed that carriers with co-inheritance of ß-thalassaemia and mild α-thalassaemia expressed the lightest anemia, and carriers with co-inheritance of ß-thalassaemia and hemoglobin H (Hb H) disease expressed the most severe anemia. CONCLUSION: There is a high prevalence of α,ß-thalassaemia in Huizhou area of Guangdong Province. Because of the lack of specific hematological makers for diagnosis of α,ß-thalassaemia, it is necessary to distinguish it from simple ß-thalassaemia by genotyping of α- and ß-thalassaemia in order to correctly guide genetic counseling and prenatal disgnosis.

Blood cells and hematological parameters of Chiala Mountain Salamander, Batrachuperus karlschmidti (Urodela, Hynobiidae).

Hematological parameters are essential indices for assessing the function of blood and reflecting not only the health status of animal but also their physiological adaptation to the environment. Herein, the composition of blood cells and the hematological parameters of wild Batrachuperus karlschmidti were examined for the first time, and the effects of sex, body size, body mass, and age on the hematological parameters were explored. The morphology and morphometric data of the blood cells, as well as the hematological parameters, of B. karlschmidti were slightly differ from those of its congener. However, hematological differences between sexes were only found in erythrocyte and leukocyte count, and mean cell volume (MCV), which possibly reflecting the need for better oxygen distribution and stronger immune protection for reproduction. Hematocrit (Hct) and mean cell hemoglobin (MCH) were strongly dependent on body mass. These also might have been attributed to higher oxygen requirements with larger body masses. This is a pilot project exploring the hematology of this species that may help establish hematological parameters in future for supporting species protection and monitoring studies, as well as help understanding the physiological adaptation of this species.

Association Analysis between Genotype and Phenotype of α,β-Thalassaemia Carriers in Huizhou Area of Guangdong Province / 中国实验血液学杂志

OBJECTIVE@#To analyze the prevalence, genotype distribution and hematological characteristics of α,β-thalassaemia carriers in Huizhou area of Guangdong Province.@*METHODS@#10 809 carriers of simple β-thalassaemia and 1 757 carriers of α,β-thalassaemia were enrolled as our study cohort. The hematological parameters were detected by automated blood cell counters and automatic capillary electrophoresis. Suspension array technology, gap-polymerase chain reaction (gap-PCR) and PCR-reverse dot blot were used for the genotyping of thalassaemia carriers.@*RESULTS@#The prevalence of α,β-thalassaemia in Huizhou area of Guangdong Province was 1.99%. A total of 62 genotypes were detected, and the most prevalent genotype was --SEA/ αα, βCD41-42/ βN (19.29%), the next was --SEA/ αα, βIVS-II-654/ βN (16.73%). Significant differences in mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) were found between different genotype groups for simple β-thalassaemia and α,β-thalassaemia. Violin plots showed that carriers with co-inheritance of β-thalassaemia and mild α-thalassaemia expressed the lightest anemia, and carriers with co-inheritance of β-thalassaemia and hemoglobin H (Hb H) disease expressed the most severe anemia.@*CONCLUSION@#There is a high prevalence of α,β-thalassaemia in Huizhou area of Guangdong Province. Because of the lack of specific hematological makers for diagnosis of α,β-thalassaemia, it is necessary to distinguish it from simple β-thalassaemia by genotyping of α- and β-thalassaemia in order to correctly guide genetic counseling and prenatal disgnosis.

Analysis of HKαα Genotype and Hematological Characteristics in South Guangxi / 中国实验血液学杂志

OBJECTIVE@#To investigate the detection rate and hematologic phenotype of HKαα thalassemia in south Guangxi, in order to provide reference for the prevention and control of thalassemia and prenatal and postnatal care consultation in this region.@*METHODS@#Gene testing was performed on pre-marital medical examinations, pre-pregnancy eugenic health examinations, prenatal examinations and hospitalized thalassemia-positive persons in south of Guangxi, and the results were analyzed.@*RESULTS@#A total of 183 190 thalassemia patients were included in this study, the age was mainly concentrated in 26-35 years old (101 709 cases, accounting for 55.521%), and 40 HKαα mutations were detected, detection rate was 0.022%, including 5 cases in Nanning, 22 cases in Qinzhou, 2 cases in Fangchenggang, 11 cases in Beihai. A total of 29 ethnic groups were included in the survey, but HKαα gene was observed only in Han nationality (0.0380%) and Zhuang nationality (0.0068%). A total of 8 genotypes carrying HKαα mutations were detected in this study ( HKαα/--SEA, βN/ βN, HKαα/αα, β-28/ βN, HKαα/αα, β-50/ βN, HKαα/αα, βCD17/ βN, HKαα/αα, βCD27/28/β N, HKαα/αα, βCD41-42/ βN, HKαα/αα, βCD71-72/ βN, and HKαα/αα, βN/ βN). Except for most cases with HKαα/αα, βN/ βN genotypes with no significant changes in the hematological indexes, mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) of other genotypes were decreased, showing microcytic hypochromic performance, mild anemia or no anemia.@*CONCLUSION@#HKαα carrier is often misdiagnosed as -α3.7 carrier, which easily leads to missed diagnosis or misdiagnosis. Therefore, it is necessary to continuously improve the diagnostic level of laboratory testing personnels and genetic counselors to avoid unnecessary interventional puncture operations and birth of children with moderate and severe thalassemia.

Hematological relevance of JAK2 V617F and calreticulin mutations in Tunisian patients with essential thrombocythemia.

BACKGROUND: The genetic investigation of essential thrombocythemia(ET) has highlighted the presence of driver mutations in ET. Janus kinase JAK2V617F and calreticulin(CALR) mutations are the most frequent driver mutations and have significantly improved the molecular diagnosis of ET. The impact of genetic heterogeneity on clinical features has not been fully elucidated. This is the first study which aimed to determine the frequency of JAK2V617F and CALR exon9 mutations in Tunisian ET patients and to establish the correlation between hematological characteristics and mutational status. METHODS: This study included Tunisian patients suspected with ET and was conducted between September 2017 and March 2021. Genomic DNA of patients was isolated from peripheral blood samples. JAK2V617F was detected by AS-PCR and CALR mutations were detected by PCR/direct sequencing. Clinical and hematological characteristics were also analyzed. RESULTS: Two hundred and fifty ET patients were enrolled in this study. JAK2V617F mutation was found in 166/250 (66.4%) of patients, whereas CALR mutations were detected in 27/84 (32.1%) patients without JAK2V617F. Compared with JAK2V617F-positive patients, those with CALR mutations showed lower hemoglobin level and lower leucocytes count (p = 0.007 and p = 0.004,respectively). CALR type 2 was the most frequent mutation of CALR detected in 55.55% of CALR mutated. Six of seven patients with thrombotic events harbored JAK2V617F mutation. CONCLUSION: The prevalence of driver mutations JAK2V617F or CALR mutations was 77.2% in Tunisian ET patients. Moreover, patients with JAK2 V617F mutation had a higher risk of thrombosis. The mutational status is necessary to improve the diagnosis and contribute to the therapeutic decisions.

Clinical and hematological characteristics of 300 COVID-19 patients in Erbil, Kurdistan Region, Iraq.

BACKGROUND: COVID-19 primarily presents as a respiratory tract infection, but studies indicate that it could be considered a systemic disease that can spread to affect multiple organ systems, including respiratory, cardiovascular, gastrointestinal, hematopoietic, neurological, and immune systems. OBJECTIVE: To describe and analyze the clinical and hematological characteristics of 300 hospitalized COVID-19 patients in Erbil, Kurdistan. METHODS: This retrospective study included 300 patients of any age admitted to hospital due to confirmed COVID-19 between September 2020 and February 2021. Cases were diagnosed by reverse transcriptase polymerase chain reaction assays of nasopharyngeal swab specimens. RESULTS: The highest proportion of patients were aged 21-40 years. The most common symptoms among the patients were myalgia (66.7%), fatigue (62.3%), headache (50.7%), and chest pain (52.7%). Differences in hematological and biochemical parameters were observed between deceased and recovered patients. Only the mid-range absolute count percentage (MID%) was significantly higher in the recovered patients than in the deceased ones (6.41% vs. 4.48, p = 0.019). Death was significantly higher among older patients (>40 years) than younger ones (≤40 years) (6.8% vs. 1.3%, p = 0.015), diabetic than non-diabetic (10.8% vs. 3%, p = 0.047), and those having chronic diseases than those without chronic diseases (10.6% vs. 2.1%, p = 0.006). CONCLUSIONS: Different hematological and biochemical parameter findings were observed among the COVID-19 patients. Low MID%, older age, and presence of diabetes mellitus and chronic disease were significantly associated with death among COVID-19 patients.

Hematological characteristics of patients with novel coronavirus pneumonia in intensive care unit.

BACKGROUND: Toward the end of December 2019, a novel type of coronavirus (2019-nCoV) broke out in Wuhan, China. Here, the hematological characteristics of patients with severe and critical 2019-nCoV pneumonia in intensive care unit (ICU) were investigated, which may provide the necessary basis for its diagnosis and treatment. METHODS: We collected data on patients with confirmed 2019-nCoV pneumonia in the ICU of Leishenshan Hospital in Wuhan from February 25 to April 2, 2020. Real-time reverse-transcription polymerase chain reaction was used to confirm the presence of 2019-nCoV, and various hematological characteristics were analyzed. RESULTS: All patients tested positive for 2019-nCoV using nasopharyngeal swabs or sputum after admission, and interstitial pneumonia findings were noted on chest computed tomography. Sex, age and comorbidities were not significantly different between the severe and critical groups. In terms of prognosis, the survival rate of patients in the severe group reached 100%, whereas that of patients in the critical group was only 13.33% after positive treatment. Furthermore, lymphocyte percentage, blood urea nitrogen, calcium, D-dimer, myohemoglobin, procalcitonin, and IL-6 levels were high-risk factors for disease progression in critical patients. Finally, lymphocyte percentage and blood urea nitrogen, calcium, myohemoglobin, and IL-6 levels were closely associated with patient prognosis. CONCLUSIONS: 2019-nCoV pneumonia should be considered a systemic disease. Patients with more complications were more likely to develop critical disease. Lymphocyte percentage and blood urea nitrogen, calcium, myohemoglobin, and IL-6 levels can be monitored to prevent progression critical disease.

Hematological profile of blood parasitic infected dogs in Southern Thailand.

BACKGROUND AND AIM: Tick-borne pathogens such as Babesia canis, Hepatozoon canis, and Ehrlichia canis can cause serious disease in canines. Each blood parasite can be associated with different hematological characteristics in infected dogs. Identification of hematological alterations during routine laboratory screening of blood samples from dogs displaying clinical signs is essential for diagnosing blood parasitic infections. This study aimed to evaluate parasitic infections and hematological alterations in blood samples of infected dogs in Southern Thailand. MATERIALS AND METHODS: A total of 474 blood samples were collected from dogs presented at the Veterinary Teaching Hospital of the Prince of Songkla University between 2016 and 2019. An automatic hematology analyzer was used to establish hematological values; peripheral blood films were screened for blood parasites and their detection was associated with hematological alterations to determine the odds ratio (OR). RESULTS: This study found that E. canis (n=127) was the most common blood parasite infecting dogs in southern Thailand, followed by H. canis (n=100) and B. canis (n=24). Hematological alterations caused by Ehrlichia infections included anemia, thrombocytopenia, monocytosis, and eosinophilia (OR=14.64, 17.63, 20.34, and 13.43, respectively; p<0.01). The blood samples of Hepatozoon-infected dogs were characterized by anemia, thrombocytopenia, leukocytosis, neutrophilia, and monocytosis (OR=6.35, 3.16, 12.80, 11.11, and 17.37, respectively; p<0.01). Anemia, thrombocytopenia, eosinopenia, and lymphopenia (OR=10.09, 33.00, 20.02, and 66.47 respectively; p<0.01) were associated with B. canis-infected dogs. CONCLUSION: These data support the fact that hematological abnormalities are a hallmark for the identification of tick-borne infections. The hematological values, hereby reported, can be used as a guideline for the clinical diagnosis of canine blood parasitic infections in Southern Thailand.

Hematological and biochemical status of Beta-thalassemia major patients in Bangladesh: A comparative analysis.

BACKGROUND: Thalassemia is one of the most common hereditary disorders and Beta-thalassemia major is its severe form. The present study is concerned with the analysis of liver function, thyroid function and estimation of critical serum ions as well as hematological characteristics in beta-thalassemia patients and controls. SUBJECTS AND METHODS: The study included 54 patients with beta-thalassemia major and 54 healthy individuals matched by sex and age. The activity of Alanine transaminase (ALT), Alkaline phosphatase (ALP) and Aspartate transaminase (AST) were assessed in order to evaluate the liver function. Serum content of iron (Fe), calcium (Ca), magnesium (Mg), sodium (Na) and potassium (K) were also estimated. Tri iodothyronine (T3), Thyroxin (T4) and Thyroid-stimulating hormone (TSH) levels were assessed in order to evaluate the thyroid function. Hemoglobin (Hb), ferritin, hematocrit (HCT), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration(MCHC), total iron binding capacity (TIBC) and creatinine level were also measured. RESULTS: Significantly, higher ALT (P< 0.001), AST (P< 0.05), ALP (P< 0.001) activities and lower creatinine (P< 0.001) level in beta-thalassemia patients were found in comparison to healthy individuals. Lower serum level of calcium (P< 0.05), magnesium (P< 0.05) and higher level of iron (P> 0.05), sodium (P> 0.05) and potassium (P > 0.05) have been found in patients in comparison to healthy individuals. Hematological parameters like Hb (P< 0.001), ferritin (P< 0.05), HCT (P< 0.001), MCV (P< 0.05) and MCH (P< 0.05) have been significantly reduced in patients except MCHC (P> 0.05). No significant difference was observed in thyroid function between patients and control group. CONCLUSIONS: Our study demonstrates that beta-thalassemia patients and controls have difference in liver function, thyroid function, serum contents of ions and hematological characteristics.

Effects of traditional homemade koumiss on some hematological and biochemical characteristics in sedentary men exposed to exercise.

We evaluated the effects of koumiss on some hematological and biochemical characteristics of persons who exercise. Eighteen sedentary males were assigned to three equal groups: koumiss (K), koumiss + exercise (KE) and exercise alone (E). Leukocytes (WBC), differential leucocyte count, erythrocytes (RBC), hemoglobin (HGB), hematocrit (HCT), platelet (PLT), glucose, total cholesterol, triglycerides, high density lipoprotein (HDL), aspartate aminotransferase (AST) and alanine aminotransferase (ALT) were assessed In blood samples. By the end of the study, triglycerides (TG) and cholesterol levels tended to decrease in all groups, but the decrease was significant only at day 15 for the KE group. HDL tended to be increased in all groups at day 15, but the increase was significant only in the KE group. We found that koumiss had beneficial effects on some hematological and biochemical characteristics.

The effects of L-carnitine on some hematological parameters in rats fed a cholesterol-rich diet.

We evaluated the effects of L-carnitine on the hematological characteristics of rats fed a cholesterol-rich diet. Healthy male Wistar Albino rats were assigned to four equal groups. During the 40 day experiment, group 1 was fed standard rat pellets, group 2 was fed standard rat pellets containing 7.5 % cholesterol powder, group 3 was fed standard rat pellets and water that contained 75 mg/l L-carnitine, and group 4 was fed standard rat pellets that contained 7.5% cholesterol and water that contained 75 mg/l L-carnitine. Blood samples were analyzed for red (RBC) and white (WBC) blood cells, hemoglobin, hematocrit, granulocytes, lymphocytes, monocytes, mean cell volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC) using an automated cell counter. The RBC count in the group that received the 7.5% cholesterol diet was decreased significantly compared to the other groups. The hematocrit of the cholesterol group was lower than for the L-carnitine + cholesterol and L-carnitine groups. The MCV in the cholesterol group was significantly higher than the control group. The MCH in the cholesterol group was higher than for the other groups. There was no significant difference among the groups with regard to hemoglobin, MCHC, WBCs and leukocyte types. L-carnitine appears to have beneficial effects on erythrocyte stability, erythropoiesis and hyperlipidemia.