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Data Brief 2022 Jun 2;42:108230. Epub 2022 May 2.

Sex Development Laboratory, Hudson Institute of Medical Research, Melbourne, VIC 3168, Australia.

This dataset represents genes that are dysregulated in the postnatal day 12 (P12) mouse testis when ATRX is specifically inactivated in Sertoli cells ( mice). The differentially expressed genes included in the dataset may play important roles in the testicular phenotypes observed in the mice, which were first reported in our previous work [1]. In fetal mice, Sertoli cells undergo apoptosis due to cell cycle defects, resulting in smaller testes with reduced tubule volume [1]. Read More

Hemoglobin 2022 May 17:1-4. Epub 2022 May 17.

Department of Laboratory Medicine, Shenzhen Children's Hospital, Shenzhen, Guangdong Province, People's Republic of China.

With the development of sequencing technology, more and more rare thalassemia types have been found. In this article, we found a novel Hb H disease combined with glucose-6-phosphate dehydrogenase (G6PD) deficiency through whole genome sequencing (WGS), which was verified by Sanger sequencing and polymerase chain reaction (PCR)-reverse dot-blot hybridization, respectively. Read More

Int J Mol Sci 2022 Apr 30;23(9). Epub 2022 Apr 30.

State Key Laboratory of Genetic Engineering, MOE Engineering Research Center of Gene Technology, School of Life Sciences, Fudan University, Shanghai 200438, China.

Recently developed Prime Editor 3 (PE3) has been implemented to induce genome editing in various cell types but has not been proven in human hematopoietic stem and progenitor cells. Using PE3, we successfully installed the beta-thalassemia (beta-thal) mutations in the HBB gene in the erythroid progenitor cell line HUDEP-2. We inserted the reporter gene cassette into editing plasmids, each including the prime editing guide RNA (pegRNA) and nick sgRNA. Read More

J Int Med Res 2022 May;50(5):3000605221099013

Department of Clinical Laboratory, Ganzhou People's Hospital, Ganzhou, P. R. China.

β-thalassemia (β-thal) is one of the most prevalent inherited blood disorders in Ganzhou, south China. Next-generation sequencing was used to screen for thalassemia carriers in the general population. During the screening, we identified a novel β-thal variant in a 46-year-old Chinese man, which was validated by Sanger sequencing. Read More

Acta Biomed 2022 May 11;93(2):e2022162. Epub 2022 May 11.

15 First Department of Pediatrics, National Kapodistrian University of Athens, Greece.

Objective: The management of prediabetes and hyperglycemia is an increasingly important aspect of care in patients with thalassemia. In light of the limited evidence about the management of GD (glucose dysregulation) with glucose-lowering agents (GLAs), we have conducted a retrospective survey in TDT and NTDT patients with diabetes mellitus to collect more detailed information on GLA use in order to make preliminary recommendations.

Study Design And Method: A questionnaire was prepared and distributed to the tertiary thalassemia care Centers of ICET-A Network. Read More

Clin Lab 2022 May;68(5)

Background: Thalassemia carrier couples play an important role in increasing thalassemia patients. The study of thalassemia genotypes in carrier couples is also effective in improving genetic counseling for them. The aim of this study was to investigate the prevalence of thalassemia mutations and genotypes in couples. Read More

Ann Acad Med Singap 2022 04;51(4):244-246

Department of Paediatrics, KK Women's and Children's Hospital, Singapore.

Indian J Hematol Blood Transfus 2022 Apr 30;38(2):424-426. Epub 2021 Nov 30.

Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Jinsui Road 9, Guangzhou, 510623 Guangdong China.

Indian J Hematol Blood Transfus 2022 Apr 27;38(2):352-358. Epub 2021 May 27.

Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, No.18 Daoshan Road, Gulou District, Fuzhou, 350001 Fujian China.

Carriers of α-thalassemia exhibit hypochromic microcytosis with mean corpuscular volume (MCV) < 80 fL, mean corpuscular hemoglobin (MCH) < 27 pg, and reduced hemoglobin A (HbA). We studied the distribution and diagnostic efficiencies of these indicators and their combinations in patients with and without alpha-thalassemia. Based on genetic diagnosis, 10,883 participants were divided into alpha-thalassemia group (n = 1655) and negative-for-alpha-thalassemia group (n = 9228). Read More

Front Med (Lausanne) 2022 12;9:880752. Epub 2022 Apr 12.

Biomedical Research Institute of Murcia (IMIB), Murcia, Spain.

β-thalassemia is a disease caused by genetic mutations including a nucleotide change, small insertions or deletions in the β-globin gene, or in rare cases, gross deletions into the β-globin gene. These mutations affect globin-chain subunits within the hemoglobin tetramer what induces an imbalance in the α/β-globin chain ratio, with an excess of free α-globin chains that triggers the most important pathogenic events of the disease: ineffective erythropoiesis, chronic anemia/chronic hypoxia, compensatory hemopoietic expansion and iron overload. Based on advances in our knowledge of the pathophysiology of β-thalassemia, in recent years, emerging therapies and clinical trials are being conducted and are classified into three major categories based on the different approach features of the underlying pathophysiology: correction of the α/β-globin disregulation; improving iron overload and reverse ineffective erythropoiesis. Read More

Reprod Biol Endocrinol 2022 Apr 30;20(1):75. Epub 2022 Apr 30.

Center of Reproductive Medicine, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, Guangdong, China.

Background: This study aimed to evaluate the ability of next-generation sequencing (NGS) to conduct preimplantation genetic testing (PGT) for thalassemia using affected embryos.

Methods: This study included data from 36 couples who underwent PGT for thalassemia without probands and relative pedigrees. NGS results were compared with prenatal diagnosis results. Read More

J Am Assoc Nurse Pract 2022 May 1;34(5):698-700. Epub 2022 May 1.

Associate Dean for Academic Affairs, Daniel K. Inouye Graduate School of Nursing, Bethesda, Maryland.

Abstract: Anemia, the overall reduction of red blood cell (RBC) mass in an individual, occurs as a result of an underlying condition. It is probably the most common pathological state worldwide and can be acute, chronic, congenital, or acquired. It can be placed in one of three broad categories: blood loss, hypoproliferative, and hemolytic. Read More

J Biomed Nanotechnol 2022 Feb;18(2):405-421

Federal University of Maranhão, Department of Physics, Laboratory of Biophysics and Nanosystems, Campus Bacanga, São Luís, 65080-805, Maranhão, Brazil.

Several diseases are characterized by changes in the mechanical properties of erythrocytes. Hemolytic anemias are an example of these diseases. Among the hemolytic anemias, Sickle Cell Disease and Thalassemia are the most common, characterized by alterations in the structure of their hemoglobin. Read More

PLoS One 2022 28;17(4):e0267832. Epub 2022 Apr 28.

Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.

Background: Identification of α0-thalassemia (SEA and THAI deletions) is essential in preventing and controlling of severe thalassemia diseases. We have developed the LAMP colorimetric assays for the detection of these two thalassemia defects and validated them in population screening and prenatal diagnosis.

Methods: Three LAMP colorimetric assays specific for α0-thalassemia (SEA deletion), α0-thalassemia (THAI deletion) and normal DNA sequence were developed. Read More

J Diabetes Investig 2022 Apr 27. Epub 2022 Apr 27.

Health Management Center, West China Hospital, Sichuan University, Chengdu, China.

Glycated hemoglobin (HbA1c) is an important method for monitoring blood glucose and diagnosing diabetes. High-performance liquid chromatography is more commonly used in the laboratory for the detection of HbA1c. Although HbA1c detected by high-performance liquid chromatography is susceptible to abnormal hemoglobin, there are few reports that it is affected by α-thalassemia. Read More

Ann Hematol 2022 Apr 25. Epub 2022 Apr 25.

Hematology Service, Hospital Clínico San Carlos, C/Profesor Martín Lagos s/n, 28040, Madrid, Spain.

Most β-thalassemias are caused by mutations involving one or a limited number of nucleotides within the gene or its adjacent regions. They can be substitutions or deletions; in these cases, the loss ranges from a single nucleotide to even the entire HBB gene, so we wonder if the phenotype is due to the size of the deletion or the location of the mutation. To clarify this, we present two new deletions in the β-globin gene that cause β-thalassemia. Read More

Int J Gen Med 2022 15;15:4093-4100. Epub 2022 Apr 15.

Department of Clinical Laboratory Science, College of Applied Medical Sciences, Taif University, Taif, Saudi Arabia.

Purpose: Sickle cell disease (SCD) and thalassemia are common inherited blood disorders in Saudi Arabia, especially in Jazan Province. Patients with these disorders require multiple blood transfusions, which may lead to alloimmunization because of mismatched blood group antigens. In this study, we examined the alloimmunization and autoimmunization rates in patients with SCD and thalassemia together with the involved antibodies. Read More

Front Pediatr 2022 4;10:834087. Epub 2022 Apr 4.

Radiological Department, Yiwu Maternity and Child Health Care Hospital, Yiwu, China.

Background: Alpha-thalassemia/intellectual disability syndrome (ATR-X) (OMIM # 301040) was first described by Wilkie et al. (1). Several studies found that children who presented with significantly consistent clinical phenotypes of hemoglobin H (Hb H) disease and profound mental handicap carried (, OMIM300032) gene variants. Read More

J Assoc Physicians India 2022 Apr;70(4):11-12

VMMC and Safdarjung Hospital, Aligarh.

To study clinical, hematological and molecular characteristics of patients of thalassemia and hemoglobinopathies and to correlate the molecular characteristics with clinical and hematological presentations. Material: This observational cross sectional study included 100 patients of age >12 years of all genders with chronic haemolytic anemia and history of multiple blood transfusion. Blood and radiological investigations were done. Read More

Expert Opin Ther Targets 2022 Apr 26;26(4):347-359. Epub 2022 Apr 26.

Professor of Medicine, Pediatrics, Pathology and Laboratory Medicine, Boston University School of Medicine, Boston,MA, USA.

Introduction: Sickle cell disease and β thalassemia are the principal β hemoglobinopathies. The complex pathophysiology of sickle cell disease is initiated by sickle hemoglobin polymerization. In β thalassemia, insufficient β-globin synthesis results in excessive free α globin, ineffective erythropoiesis, and severe anemia. Read More

J Neurophysiol 2022 May 13;127(5):1309-1316. Epub 2022 Apr 13.

Department of Neurology, Mengcun County Hospital, Cangzhou, People's Republic of China.

The α thalassemia/mental retardation syndrome X-linked (ATRX) mutation impairs DNA damage repair in glioblastoma (GBM), making these cells more susceptible to treatment, which may contribute to the survival advantage in patients with GBM containing ATRX mutations. To better understand the role of ATRX in GBM, genes correlated with ATRX expression were screened in the Cancer Genome Atlas (702 cases) and Chinese Glioma Genome Atlas (325 cases) databases. Sodium-vitamin C cotransporter 2 (SVCT2) was the most positively correlated gene with ATRX expression. Read More

Saudi Med J 2022 Apr;43(4):353-359

From the Department of Laboratory (Kang, Yi, Tan, Q. Li, C. Li), Chongqing Health Center for Women and Children, Chongqing, China.

Objectives: To analyze pregnant-specific intervals for hemoglobin A2 (HbA2), hemoglobin fetal (HbF), and cut-off points of HbA2 for thalassemia in Chongqing, China.

Methods: Between September 2015 and April 2019, the study recruited 10039 individuals of reproductive age. Of which, 4399 healthy normal individuals were selected to determine reference values for HbA2 and HbF. Read More

Mol Biol Rep 2022 Apr 11. Epub 2022 Apr 11.

Department of Genetics, The Affiliated Hospital of Guilin Medical University, Guilin, 541001, Guangxi, People's Republic of China.

Background: The hematological phenotype and genotype analysis of hemoglobin New York (Hb New York) combined with α or β thalassemia has been rarely reported, and whether there is any effect of Hb New York on thalassemia has not been well explored.

Methods And Results: In this study, peripheral blood samples from 346 Hb New York carriers were collected for blood cell parameter analysis. When comparing Hb New York heterozygotes, Hb New York combined with α thalassemia or α thalassemia, we found that the differences in hemoglobin (HGB), MCV and MCH values were statistically significant (P < 0. Read More

Front Med (Lausanne) 2022 23;9:866396. Epub 2022 Mar 23.

Hematology Service, Hospital Clínico San Carlos, Madrid, Spain.

Objectives: To verify with hematimetric data that the diagnosis and clinical grade of β-TI can be established when a triplication of alpha genes (αanti 3.7) and heterozygous β-thalassemia coexist.

Materials And Methods: Retrospective study in which 73 patients of Caucasian origin participated, who simultaneously showed a triplication or quadruplication of genes α and β-thalassemia. Read More

J Med Case Rep 2022 Apr 10;16(1):145. Epub 2022 Apr 10.

Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital, University of Bern, 3010, Bern, Switzerland.

Background: Unstable hemoglobinopathies are rare inherited disorders of hemoglobin causing a reduction of hemoglobin molecule solubility. This results in an unstable hemoglobin tetramer/globin polypeptide, which precipitates within the red blood cell. Affected red blood cells have a reduced lifespan due to oxidative stress and cellular rigidity, and tend to be phagocytized by spleen macrophages more rapidly. Read More

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2022 Apr;30(2):543-546

Department of Transfusion, The Affiliated Hospital of Southwest Medical University, Luzhou 646000, Sichan Province,

Objective: To analyze the genotype characteristics of α- and β-thalassemia and the diagnostic value of hematological indexes in pregnant women in Xindu District of Chengdu.

Methods: The blood routine parameters(MCV) <80 fl and (or) (MCH) <27 pg and hemoglobin electrophoresis were used to screen the pregnant women, PCR-reverse dot blot hybridization(PCR-RDB) technique was used to detect the common α- and β-thalassemia gene types in the primary screening positive population. The husbands of the diagnosed pregnant women were recalled for gene testing, and the highly suspected patients were checked by gene sequencing. Read More

Ultraschall Med 2022 Apr 5;43(2):111-114. Epub 2022 Apr 5.

Centre for Ultrasound and Prenatal Medicine, Frankfurt/Main, Germany.

Front Pediatr 2022 17;10:839775. Epub 2022 Mar 17.

Department of Pediatric Hematology/Oncology and Hematopoietic Stem Cell Transplantation (HSCT), Meyer Children's University Hospital, Florence, Italy.

Introduction: ε thalassemia is a rare form of β-thalassemia mostly described in children originating from Northern Europe. Only anecdotic cases from the Mediterranean area are reported. The diagnosis is challenging, considering the rarity of the disease and its heterogeneous clinical presentation. Read More

Neoreviews 2022 Apr;23(4):e284-e290

Departments of Maternal-Fetal Medicine.

Sci Rep 2022 03 30;12(1):5414. Epub 2022 Mar 30.

Department of Hematogenetics, National Institute of Immunohematology, Indian Council of Medical Research [ICMR], 13th Floor, K.E.M. Hospital Campus, Parel, Mumbai, 400 012, India.

Increased HbA levels are the characteristic feature of β-thalassemia carriers. A subset of carriers however do not show HbA levels in the typical carrier range (≥ 4.0%) but show borderline HbA levels. Read More