Research & Literature

Rapid detection of α-thalassaemia alleles of --(SEA)/, -α(3.7)/ and -α(4.2)/ using a dual labelling, self-quenching hybridization probe/melting curve analysis.

Gao L, Liu Y, Sun M, et al.

Molecular and cellular probes 2015; (29(6)):438-441 doi:10.1016/j.mcp.2015.07.004.

Homozygosity for the AATAAA > AATA- - Polyadenylation Site Mutation on the α2-Globin Gene Causing Transfusion-Dependent Hb H Disease in an Iranian Patient: A Case Report.

Farashi S, Garous NF, Ashki M, et al.

Hemoglobin 2015; (39(5)):355-8 doi:10.3109/03630269.2015.1059850.

Discriminant indices for distinguishing thalassemia and iron deficiency in patients with microcytic anemia: a meta-analysis.

Hoffmann JJ, Urrechaga E, Aguirre U

Clinical chemistry and laboratory medicine 2015; (53(12)):1883-94.

Prevalence and Risk Factors for Complications in Patients with Nontransfusion Dependent Alpha- and Beta-Thalassemia.

Winichakoon P, Tantiworawit A, Rattanathammethee T, et al.

Anemia 2015; (2015()):793025 doi:10.1155/2015/793025.

Optimizing chronic transfusion therapy for survivors of hemoglobin Barts hydrops fetalis.

Amid A, Chen S, Brien W, et al.

Blood 2016; (127(9)):1208-11 doi:10.1182/blood-2015-10-673889.

Response to parenteral iron therapy distinguish unexplained refractory iron deficiency anemia from iron-refractory iron deficiency anemia.

Akin M, Sarbay H, Guler S, et al.

International journal of laboratory hematology 2016; (38(2)):167-71 doi:10.1111/ijlh.12462.

Red cell parameters in infant and children from the Arabian Peninsula.

Mekaini LA, Denic S, Jabri ON, et al.

American journal of blood research 2015; (5(2)):101-7.

Laboratory diagnosis of thalassemia.

Brancaleoni V, Di Pierro E, Motta I, Cappellini MD

International journal of laboratory hematology 2016; (38 Suppl 1()):32-40 doi:10.1111/ijlh.12527.

Evaluation of bone mineral density in patients with hemoglobin H disease.

Zarei T, Haghpanah S, Parand S, et al.

Annals of hematology 2016; (95(8)):1329-32 doi:10.1007/s00277-016-2708-9.

Successful matched unrelated donor stem cell transplant in Hemoglobin Bart's disease.

Elsaid MY, Capitini CM, Diamond CA, et al.

Bone marrow transplantation 2016; (51(11)):1522-1523 doi:10.1038/bmt.2016.153.

Hepcidin detects iron deficiency in Sri Lankan adolescents with a high burden of hemoglobinopathy: A diagnostic test accuracy study.

Wray K, Allen A, Evans E, et al.

American journal of hematology 2017; (92(2)):196-203 doi:10.1002/ajh.24617.

Molecular diagnosis of α-thalassemia in a multiethnic population.

Gilad O, Shemer OS, Dgany O, et al.

European journal of haematology 2017; (98(6)):553-562 doi:10.1111/ejh.12866.

Systematic evaluation of paediatric cohort with iron refractory iron deficiency anaemia (IRIDA) phenotype reveals multiple TMPRSS6 gene variations.

Bhatia P, Singh A, Hegde A, et al.

British journal of haematology 2017; (177(2)):311-318 doi:10.1111/bjh.14554.

A Pilot Study of Noninvasive Prenatal Diagnosis of Alpha- and Beta-Thalassemia with Target Capture Sequencing of Cell-Free Fetal DNA in Maternal Blood.

Wang W, Yuan Y, Zheng H, et al.

Genetic testing and molecular biomarkers 2017; (21(7)):433-439 doi:10.1089/gtmb.2016.0411.

[Genotype of Thalassemia in Han Chinese and Tibetans in Sichuan Province,China.]

Niu Q, Huang XB, An YF, et al.

Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition 2016; (47(6)):941-944.

Molecular basis of α-thalassemia.

Farashi S, Harteveld CL

Blood cells, molecules & diseases 2018; (70()):43-53 doi:10.1016/j.bcmd.2017.09.004.

Fetal heart size measurements as new predictors of homozygous α-thalassemia-1 in mid-pregnancy.

Li X, Qiu X, Huang H, et al.

Congenital heart disease 2018; (13(2)):282-287 doi:10.1111/chd.12568.

Iron overload in transfusion-dependent survivors of hemoglobin Bart's hydrops fetalis.

Amid A, Chen S, Athale U, et al.

Haematologica 2018; (103(5)):e184-e187 doi:10.3324/haematol.2017.178368.

β-Thalassemia intermedia: a comprehensive overview and novel approaches.

Asadov C, Alimirzoeva Z, Mammadova T, et al.

International journal of hematology 2018; (108(1)):5-21 doi:10.1007/s12185-018-2411-9.

Characterization of Hb Bart's Hydrops Fetalis Caused by - -SEA and a Large Novel α0-Thalassemia Deletion.

He S, Li J, Huang P, et al.

Hemoglobin 2018; (42(1)):61-64 doi:10.1080/03630269.2018.1434198.

Outcomes and morbidities of patients who survive haemoglobin Bart's hydrops fetalis syndrome: 20-year retrospective review.

Chan WY, Leung AW, Luk CW, et al.

Hong Kong medical journal = Xianggang yi xue za zhi 2018; (24(2)):107-118 doi:10.12809/hkmj176336.

Thalassemia and other hemoglobinopathies among anemic individuals in Metro Manila, Philippines and their intake of iron supplements.

Capanzana MV, L Mirasol MA, Smith G, et al.

Asia Pacific journal of clinical nutrition 2018; (27(3)):519-526 doi:10.6133/apjcn.092017.01.

Molecular Characterization of Hb H and AEBart’s Diseases in Thai Children: Phramongkutklao Hospital Experiences.

Boonyawat B, Photia A, Monsereenusorn C, et al.

Journal of the Medical Association of Thailand = Chotmaihet thangphaet 2017; (100(2)):167-74.

β-Thalassemia heterozygote state detrimentally affects health expectation.

Graffeo L, Vitrano A, Scondotto S, et al.

European journal of internal medicine 2018; (54()):76-80 doi:10.1016/j.ejim.2018.06.009.

Invasive prenatal diagnosis of α-thalassemia to control Hb Bart's hydrops fetalis syndrome: 15 years of experience.

Lai K, Li S, Lin W, et al.

Archives of gynecology and obstetrics 2018; (298(2)):307-311 doi:10.1007/s00404-018-4807-4.

Molecular characterization of Hb H disease in southern Thailand.

Nittayaboon K, Nopparatana C

International journal of hematology 2018; (108(4)):384-389 doi:10.1007/s12185-018-2494-3.

Influence of alpha thalassemia on clinical and laboratory parameters among nigerian children with sickle cell anemia.

Olatunya OS, Albuquerque DM, Adekile A, Costa FF

Journal of clinical laboratory analysis 2019; (33(2)):e22656 doi:10.1002/jcla.22656.

Clinical Features and Genotypes of Patients with Hemoglobin H Disease in Taiwan.

Lin PC, Chang TT, Liao YM, et al.

Laboratory medicine 2019; (50(2)):168-173 doi:10.1093/labmed/lmy043.

Prenatal diagnosis and management of fetal discordant alpha-thalassaemia in dichorionic diamniotic (DCDA) twins.

Panchalee T, Ruangvutilert P, Limsiri P, Sutcharitpongsa P

BMJ case reports 2018; (2018()) doi:10.1136/bcr-2018-224362.

Potential new approaches to the management of the Hb Bart's hydrops fetalis syndrome: the most severe form of α-thalassemia.

King AJ, Higgs DR

Hematology. American Society of Hematology. Education Program 2018; (2018(1)):353-360 doi:10.1182/asheducation-2018.1.353.

The best cutoff value of middle cerebral artery peak systolic velocity for the diagnosis of fetal homozygous alpha thalassemia-1 disease.

Tongprasert F, Srisupundit K, Luewan S, et al.

Prenatal diagnosis 2019; (39(3)):232-237 doi:10.1002/pd.5419.

A Case of Parvovirus-Related Haemophagocytic Lymphohistiocytosis in a Patient with HbH Disease.

Aravamudan VM, Er C, Hussain I, et al.

Case reports in medicine 2018; (2018()):8057045 doi:10.1155/2018/8057045.

Thalassemia trait and G6PD deficiency in Thai blood donors.

Kittisares K, Palasuwan D, Noulsri E, Palasuwan A

Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2019; (58(2)):201-206 doi:10.1016/j.transci.2019.03.009.

[Serum level of soluble transferrin receptor in children with hemoglobin H disease].

Ren ZM, Huang LL, Huang BX, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2019; (21(9)):894-897.

A novel high-throughput molecular counting method with single base-pair resolution enables accurate single-gene NIPT.

Tsao DS, Silas S, Landry BP, et al.

Scientific reports 2019; (9(1)):14382 doi:10.1038/s41598-019-50378-8.

Oral ferroportin inhibitor VIT-2763: First-in-human, phase 1 study in healthy volunteers.

Richard F, van Lier JJ, Roubert B, et al.

American journal of hematology 2020; (95(1)):68-77 doi:10.1002/ajh.25670.

Analysis of Deletional Hb H Diseases in Samples with Hb A2-Hb H and Hb A2-Hb Bart's on Capillary Electrophoresis.

Khongthai K, Ruengdit C, Panyasai S, Pornprasert S

Hemoglobin 2019; (43(4-5)):245-248 doi:10.1080/03630269.2019.1683573.

Molecular and Hematological Characterization of a Novel Translation Initiation Codon Mutation of the α2-Globin Gene (ATG>ATC or HBA2: c.3G>C).

Lei YL, Sui H, Liu YJ, et al.

Hemoglobin 2019; (43(4-5)):241-244 doi:10.1080/03630269.2019.1686012.

Perinatal Management of Bart's Hemoglobinopathy: Paradoxical Effects of Intrauterine, Transplacental, and Partial Exchange Transfusions.

Curran M, Mikhael M, Sun WD, et al.

AJP reports 2020; (10(1)):e11-e14 doi:10.1055/s-0039-3401799.

Optimal cutoff of mean corpuscular volume (MCV) for screening of alpha-thalassemia 1 trait.

Nunchai C, Sirichotiyakul S, Tongsong T

The journal of obstetrics and gynaecology research 2020; (46(5)):774-778 doi:10.1111/jog.14222.

[Clinical practice guidelines for alpha-thalassemia].

Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association , Shang X, Zhang X, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020; (37(3)):235-242 doi:10.3760/cma.j.issn.1003-9406.2020.03.003.

Deletional Alpha-Thalassemia Alleles in Amazon Blood Donors.

Anselmo FC, Ferreira NS, da Mota AJ, et al.

Advances in hematology 2020; (2020()):4170259 doi:10.1155/2020/4170259.

Iron Overload in a Patient with Non-Transfusion-Dependent Hemoglobin H Disease and Borderline Serum Ferritin: Can We Rely on Serum Ferritin for Monitoring in This Group of Patients?

Ali M, Yassin MA, Aldeeb M

Case reports in oncology 2020; (13(2)):668-673 doi:10.1159/000507653.

Alpha thalassemia genotypes in Kuwait.

Adekile A, Sukumaran J, Thomas D, et al.

BMC medical genetics 2020; (21(1)):170 doi:10.1186/s12881-020-01105-y.

Liver complications of haemoglobin H disease in adults.

Chan LKL, Mak VWM, Chan SCH, et al.

British journal of haematology 2021; (192(1)):171-178 doi:10.1111/bjh.17115.

Role of Hematological Indices as a Screening Tool of Beta Thalassemia Trait in Eastern Uttar Pradesh: An Institutional Study.

Bhargava M, Kumar V, Pandey H, et al.

Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 2020; (36(4)):719-724 doi:10.1007/s12288-020-01282-z.

The serum ferritin levels and liver iron concentrations in patients with alpha-thalassemia: is there a good correlation?

Teawtrakul N, Sirijerachai C, Chansung K, Jetsrisuparb A

Hematology (Amsterdam, Netherlands) 2021; (26(1)):473-477 doi:10.1080/16078454.2021.1943829.

A Rare Case of Hemoglobin Bart's Hydrops Fetalis due to Uniparental Disomy of Chromosome 16.

Tan YR, Tan HK

Journal of medical cases 2021; (12(7)):275-279 doi:10.14740/jmc3693.

Genotypes of thalassemia in children: an analysis of 30 417 cases.

Li DM, He S

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2021; (23(8)):841-847 doi:10.7499/j.issn.1008-8830.2104035.

Molecular Detection of Alpha Thalassemia: A Review of Prevalent Techniques.

Vijian D, Wan Ab Rahman WS, Ponnuraj KT, et al.

Medeniyet medical journal 2021; (36(3)):257-269 doi:10.5222/MMJ.2021.14603.

Molecular and Haematological Characteristics of alpha-Thalassemia Deletions in Yogyakarta Special Region, Indonesia.

Husna N, Handayani NSN

Reports of biochemistry & molecular biology 2021; (10(3)):346-353 doi:10.52547/rbmb.10.3.346.

Impact of HFE-2 and HAMP Gene Variations on Iron Overload in Pediatric Patients with Non-Transfusion Dependent Thalassemia: A Pilot Study.

Bharadwaj N, Peyam S, Bhatia P, et al.

Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 2022; (38(1)):158-163 doi:10.1007/s12288-021-01442-9.

Rare co-inherited alpha-thalassemia minor and beta-thalassemia minor with heterozygous H63D mutation mistaken as iron deficiency anemia: a case report.

Chaudhry AF, Malik Z, Shegos CJ

AME case reports 2022; (6()):4 doi:10.21037/acr-21-40.

Alpha- and Beta-thalassemia: Rapid Evidence Review.

Baird DC, Batten SH, Sparks SK

American family physician 2022; (105(3)):272-280.

Erythrocyte Indices and Hemoglobin Analysis for α-Thalassemia Screening in an Area with High Carrying Rate.

Zheng L, Huang H, Wu X, et al.

Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 2022; (38(2)):352-358 doi:10.1007/s12288-021-01449-2.

Identification of a Novel Hb H Disease with Glucose-6-Phosphate Dehydrogenase Deficiency Using Whole Genome Sequencing.

Ren ZM, Xing ZH, Chen SL, et al.

Hemoglobin 2022; (46(3)):160-163 doi:10.1080/03630269.2022.2070072.

Role of Mentzer index for differentiating iron deficiency anemia and beta thalassemia trait in pregnant women.

Tabassum S, Khakwani M, Fayyaz A, Taj N

Pakistan journal of medical sciences 2022; (38(4Part-II)):878-882 doi:10.12669/pjms.38.4.4635.

Coexisting Iron Deficiency Anemia and Thalassemia Traits in Infants: Implication for an Anemia Screening Program.

Boonrusmee S, Thongkhao A, Wongchanchailert M, et al.

Journal of tropical pediatrics 2022; (68(4)) doi:10.1093/tropej/fmac044.

Outcomes of pregnancies complicated by haemoglobin H-constant spring and deletional haemoglobin H disease: A retrospective cohort study.

Ake-Sittipaisarn S, Sirichotiyakul S, Srisupundit K, et al.

British journal of haematology 2022; (199(1)):122-129 doi:10.1111/bjh.18338.

Hemoglobin J in a patient with severe anemia, a case report from Nepal.

Shrestha AK, Rijal A, Belbase K, et al.

Annals of medicine and surgery (2012) 2022; (82()):104703 doi:10.1016/j.amsu.2022.104703.

The Clinical Phenotypes of Alpha Thalassemia.

Lal A, Vichinsky E

Hematology/oncology clinics of North America 2023; (37(2)):327-339 doi:10.1016/j.hoc.2022.12.004.

Bone Mineral Density and Dickkopf-1 in Adolescents with Non-Deletional Hemoglobin H Disease.

Wiromrat P, Rattanathongkom A, Laoaroon N, et al.

Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry 2023; (26(3)):101379 doi:10.1016/j.jocd.2023.101379.

Analysis of Hematological Indices and Splenectomy Rates in 2,130 Patients with Hemoglobin H Diseases or β-Thalassemia.

Li Y, Zhang Y, Qin L, et al.

Acta haematologica 2023; (146(6)):458-464 doi:10.1159/000533233.

Concomitant Presence of Hb Agrinio and - -Med Deletion in a Greek Male Patient with Hemoglobinopathy H: More Severe Phenotype and Literature Review.

Diamantidis MD, Pitsava S, Zayed O, et al.

Hematology reports 2023; (15(3)):483-490 doi:10.3390/hematolrep15030050.

Justification of Universal Iron Supplementation for Infants 6-12 months in Regions with a High Prevalence of Thalassemia.

Sinlapamongkolkul P, Surapolchai P, Viprakasit V

Mediterranean journal of hematology and infectious diseases 2023; (15(1)):e2023056 doi:10.4084/MJHID.2023.056.

Case report: Identification of a novel triplication of alpha-globin gene by the third-generation sequencing: pedigree analysis and genetic diagnosis.

Chen Y, Xie T, Ma M, et al.

Hematology (Amsterdam, Netherlands) 2023; (28(1)):2277571 doi:10.1080/16078454.2023.2277571.

[Characteristics of Silent Alpha Thalassemia Gene in Child-Bearing Adults in Guangdong].

Huang G, Zheng YW, Wu J, Liu SN

Zhongguo shi yan xue ye xue za zhi 2023; (31(6)):1811-1814 doi:10.19746/j.cnki.issn.1009-2137.2023.06.032.

A comprehensive preimplantation genetic testing approach for SEA-type α-thalassemia by fluorescent gap-polymerase chain reaction combined with haplotype analysis.

Wang J, Ma Y, Guo J, et al.

Frontiers in genetics 2023; (14()):1248358 doi:10.3389/fgene.2023.1248358.

Anemia among Medical Students from Jakarta: Indonesia-Iron Deficiency or Carrier Thalassemia?

Wratsangka R, Tungka EX, Murthi AK, et al.

Anemia 2024; (2024()):4215439 doi:10.1155/2024/4215439.

Identification of a Novel 16.8Kb Deletion of the α-Globin Gene Cluster by Third-Generation Sequencing.

Jiang F, Huang S, Liu T, et al.

Hemoglobin 2024; (48(4)):244-249 doi:10.1080/03630269.2024.2378078.

Disease burden, management strategies, and unmet needs in α-thalassemia due to hemoglobin H disease.

Lal A, Viprakasit V, Vichinsky E, et al.

American journal of hematology 2024; (99(11)):2164-2177 doi:10.1002/ajh.27440.

Investigation of the Influence of Deletional and Non-Deletional Hemoglobin H Disease on Pregnancy Outcomes.

Zhao KS, Pan QA, Yang HY, et al.

International journal of women's health 2025; (17()):1-7 doi:10.2147/IJWH.S497671.

Clinical Utility of the Addition of Molecular Genetic Testing to Newborn Screening for Hemoglobinopathies for Confirmation of Alpha-Thalassemia Trait.

Shook LM, Haygood D, Quinn CT

International journal of neonatal screening 2025; (11(1)) doi:10.3390/ijns11010012.

Analysis of Common Alpha-Globin Gene Abnormalities and Their Effects as Genetic Modifiers in Thai Children With β-Globin Gene Abnormalities.

Lertsakulbunlue S, Boonyawat B, Traivaree C, Photia A

Anemia 2025; (2025()):9933808 doi:10.1155/anem/9933808.

Characterization of HbH Disease Caused by Compound Heterozygotes α+-Thalassemia 3.7 kb Deletion and a Large Novel α0-Thalassemia Deletion.

Ruengdit C, Punyamung M, Maneewong K, et al.

Hemoglobin 2025; (49(3)):229-232 doi:10.1080/03630269.2025.2495698.

Hematological analysis of alpha-thalassemia: A single-center, retrospective clinical study.

Zheng L, Yin N, Wang M, et al.

PloS one 2025; (20(8)):e0329365 doi:10.1371/journal.pone.0329365.

Coexistence of Hemoglobin D and Thalassemia Trait: A Rare Phenomenon with Cardiac Presentation.

Nimesh A, Kumawat R, Pathak A, Kumar S

The journal of Tehran Heart Center 2024; (19(Suppl 1)):68-73 doi:10.18502/jthc.v19is1.18481.

Clinical Spectrum and Genotypes of Children with Hemoglobin H in Northeastern Thailand.

Sangkha N, Komvilaisak P, Jetsrisuparp A, et al.

Mediterranean journal of hematology and infectious diseases 2025; (17(1)):e2025081 doi:10.4084/MJHID.2025.081.

Analysis of Hematological Parameters in Relation to Genotypes in 497 Patients with Hemoglobin H Disease.

Lan L, Zheng Z, Wu H

International journal of general medicine 2025; (18()):7547-7557 doi:10.2147/IJGM.S567328.

Analysis of clinical parameters of different types of α-thalassemia children in Hainan region, China.

Gao G, Sun Z, Chen J, et al.

PeerJ 2026; (14()):e20586 doi:10.7717/peerj.20586.