Thalassemia and hemoglobinopathies rather than iron deficiency are major causes of pregnancy-related anemia in northeast Thailand
Kanokwan SanchaisuriyaSupan FucharoenThawalwong RatanasiriPattara SanchaisuriyaGoonnapa FucharoenEkkahart DietzFrank Peter Schelp
44
Citation
21
Reference
10
Related Paper
Citation Trend
Keywords:
Hemoglobinopathy
Genetic hemoglobin disorders are caused by mutations and/or deletions in the α-globin or β-globin genes. Thalassemia is caused by quantitative defects and hemoglobinopathies by structural defect of hemoglobin. The incidence of thalassemia and hemoglobinopathy is increased in Korea with rapid influx of people from endemic areas. Thus, the awareness of the disease is needed. α-thalassemias are caused by deletions in α-globin gene, while β-thalassemias are associated with decreased synthesis of β-globin due to β-globin gene mutations. Hemoglobinopathies involve structural defects in hemoglobin due to altered amino acid sequence in the α- or β-globin chains. When the patient is suspected with thalassemia/hemoglobinopathy from abnormal complete blood count findings and/or family history, the next step is detecting hemoglobin abnormality using electrophoresis methods including high performance liquid chromatography and mass spectrometry. The development of novel molecular genetic technologies, such as massively parallel sequencing, facilitates a more precise molecular diagnosis of thalassemia/hemoglobinopathy. Moreover, prenatal diagnosis using genetic testing enables the prevention of thalassemia birth and pregnancy complications. We aimed to review the spectrum and classification of thalassemia/hemoglobinopathy diseases and the diagnostic strategies including screening tests, molecular genetic tests, and prenatal diagnosis.
Hemoglobinopathy
Hemoglobin electrophoresis
Beta thalassemia
Hemoglobin variants
Alpha-thalassemia
Cite
Citations (38)
Hemoglobinopathy includes structural abnormalities and haemoglobin synthesis disorders (thalassemia), is a single gene disorder that was originally found in malaria endemic areas but nowadays can be found all over the world. The birth rate of homozygous or compound heterozygous hemoglobinopathies, including alpha and beta thalassemia is less than 2.4 per 1000 births. Sickle cell anemia is the most prevalent compared to beta major and HbE-beta thalassemia. In Southeast Asia with more than 600 million people, abnormalities in hemoglobin including thalassaemia, HbE and HbCS are the most common and highly prevalent genetic disorders. Indonesia, has several areas that are endemic to malaria, there are many cases of abnormalities in Hb including thalassemia. If the percentage of carriers is associated with the birth rate and the number of Indonesian population and based on the study, it is estimated that the number of thalassemia patients born each year around 2500 children. As the case of thalassemia is increasing from year to year, it is necessary that prevention starts with screening in individuals who have relatives known as a carrier or thalassemia patient.
Hemoglobinopathy
Beta thalassemia
Alpha-thalassemia
Hemoglobin E
Ineffective erythropoiesis
Cite
Citations (6)
Thalassemia and hemoglobinopathy are two common inherited disorders, which are highly prevalent in southern China. However, there is little knowledge on the genotypes of thalassemia and hemoglobinopathy in Southeastern China. In this study, we present a large-scale genetic detection and molecular characterization of thalassemia and hemoglobinopathy in Fujian province, Southeastern China. A total of 189414 subjects screened for thalassemia were recruited, and the hemoglobin components and levels were investigated. Furthermore, suspected common thalassemia was identified, and the suspected rare forms of common thalassemias and hemoglobinopathy were detected. Among the total subjects screened, the overall prevalence of thalassemia and hemoglobinopathy was 6.8% and 0.26%, and rare α-thalassemia genotypes HKαα, –THAI/αα and −α27.6/αα, and novel β-thalassemia gene mutations CD90(G → T) and IVS-I-110(G > A) were identified. Additionally, Hb Q-Thailand hemoglobinopathy and five other types of hemoglobinopathies (Hb New York, Hb J-Bangkok, Hb G-Taipei, Hb G-Coushatta and Hb Maputo) were found. The results of this 10-year large-scale study demonstrate high prevalence of thalassemia with complicated gene mutations in Southeastern China, which provides valuable baseline data for genetic counseling and prenatal diagnosis. In addition to detection of common thalassemia genes, detection of rare thalassemia genotypes and hemoglobinopathies is recommended.
Hemoglobinopathy
Beta thalassemia
Hemoglobin variants
Cite
Citations (59)
Objective To explore the expression of IRP2 mRNA and it's regulating function in intestinal iron metabolism Methods Forty healthy adult Wistar rats were randomly divided into control group (n=10)and iron deficiency group(n=30).The model rats with iron deficiency were established. Serum iron(SI) was measured by flame assay and sFu was measured by radioimmunoassay.The total RNA of the duodenum membrane of rat was extracted hy the kit test.The expressions of IRP2 mRNA in duodenum in different anemia were tested by RT-PCR.Results The expression of IRP2 mRNA in control group was 0 .38 ± 0 .12 ,the group of recessive iron deficiency was 0.39±0.16, the group of mild tron deficiency anemia was 0.51±0. 08 , the group of moderate iron deficiency anemia was 0 .5 ± 0 .14.There was no difference between recessive iron deficiency group and control group(P0.05).The expres-sions of IRP2 mRNA in mild iron deficiency anemia group and modetate iron deficiency anemia group were significantly higher than those of control group(P0.05).In both recessive iron deficieney gronp and moderate iron deficiency anemia group, there was no dif-ference with mild iron deficiency anemia group(P0. 05). There was significant difference between recessive iron deficiency and mod-erate iron deficiency anemia group(P0.05).The expression of IRP2 mRNA increased as iron deficieney inereased.Conclusion IRP2 is an important regulatory protein in iron metabohsm.
Cite
Citations (0)
A program for the detection of thalassemias and other hemoglobinopathies in high-risk populations is described. This program, based on two screening tests, was applied to the Hellenic Army recruits and was found to work well. Red cell one-point osmotic fragility was used for the detection of thalassemic samples and hemoglobin electrophoresis for screening of other hemoglobinopathies. Samples with decreased red cell osmotic fragility and/or abnormal electrophoretic pattern were submitted for further detailed investigation. Following this program, 64,814 recruits, representing 0.651% of the total Greek population and 9.917% of the 20-year-old Greek male population, were tested. beta-Thalassemia was found with an average incidence of 5.476% and alpha-Thalassemia with an incidence of 0.201%. Hemoglobinopathy Lepore was detected in 51 samples (0.079%) and hemoglobinopathy-S in 352 samples (0.543%).
Hemoglobinopathy
Erythrocyte fragility
Beta thalassemia
Hemoglobin electrophoresis
Cite
Citations (3)
Thalassemias and hemoglobinopathies are a serious health problem in Turkey. There is a 70-year history of thalassemia in Turkey. The first patient with β-thalassemia major (β-TM) was reported in 1941. The first clinical and hematological studies were published by Aksoy in 1958. The overall incidence of β-thalassemia (β-thal) was reported by Çavdar and Arcasoy to be 2.1% in 1971. Important steps such as written regulations, education and prevention campaigns, have been taken to prevent thalassemia in Turkey by the Ministry of Health (MOH), the Turkish National Hemoglobinopathy Council (TNHC) and the Thalassemia Federation of Turkey (TFT) since 2000. A national hemoglobinopathy prevention program was started in provinces with a high prevalence by the MOH in 2003. While the percentage of premarital screening test was 30.0% of all couples in 2003, it reached 86.0% in 2013. While the number of newborn with thalassemias and hemoglobinopathies was 272 in 2002, it had dropped to 25 in 2010. There has been a 90.0% reduction of affected births in the last 10 years.
Hemoglobinopathy
Christian ministry
Alpha-thalassemia
Cite
Citations (54)
A program for the detection of thalassemias and other hemoglobinopathies in high-risk populations is described. This program, based on two screening tests, was applied to the Hellenic Army recruits and was found to work well. Red cell one-point osmotic fragility was used for the detection of thalassemic samples and hemoglobin electrophoresis for screening of other hemoglobinopathies. Samples with decreased red cell osmotic fragility and/or abnormal electrophoretic pattern were submitted for further detailed investigation. Following this program, 64,814 recruits, representing 0.651% of the total Greek population and 9.917% of the 20-year-old Greek male population, were tested. β-Thalassemia was found with an average incidence of 5.476% and α-Thalassemia with an incidence of 0.201%. Hemoglobinopathy Lepore was detected in 51 samples (0.079%) and hemoglobinopathy-S in 352 samples (0.543%).
Hemoglobinopathy
Erythrocyte fragility
Hemoglobin electrophoresis
Cite
Citations (1)
Hemoglobinopathy
Cite
Citations (22)
Defects in protein structure or synthesis of hemoglobin are called hemoglobinopathies. Thalassemia is the most common hemoglobinopathy, and it is estimated that 5% of the world population carries at least one variant allele of thalassemia. The thalassemias can be classified as alpha or beta thalassemias. Beta thalassemia may present as silent carriers with normal hematological parameters, while beta thalassemia carriers have hypochromic microcytic anemia, associated with a high HbA2. However, patients with beta thalassemia intermedia and beta thalassemia major need transfusion intermittently or regularly and they are called non-transfusion dependent thalassemias or transfusion-dependent thalassemias, respectively. This review focuses on pathophysiology, clinical, laboratory features of thalassemias along with their treatment and follow-up.
Hemoglobinopathy
Alpha-thalassemia
Beta thalassemia
Cite
Citations (4)