Research & Literature

The evolutionary origins of Southeast Asian Ovalocytosis.

Paquette AM, Harahap A, Laosombat V, et al.

Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 2015; (34()):153-9.

[Hereditary red cell membrane disorders in Japan: comparison with other countries].

Nakanishi H, Wada H, Suemori S, Sugihara T

[Rinsho ketsueki] The Japanese journal of clinical hematology 2015; (56(7)):760-70 doi:10.11406/rinketsu.56.760.

The human Kell blood group binds the erythroid 4.1R protein: new insights into the 4.1R-dependent red cell membrane complex.

Azouzi S, Collec E, Mohandas N, et al.

British journal of haematology 2015; (171(5)):862-71 doi:10.1111/bjh.13778.

Reference intervals for reticulocyte parameters of infants during their first 90 days after birth.

Christensen RD, Henry E, Bennett ST, Yaish HM

Journal of perinatology : official journal of the California Perinatal Association 2016; (36(1)):61-6 doi:10.1038/jp.2015.140.

Analysis of Hereditary Elliptocytosis with Decreased Binding of Eosin-5-maleimide to Red Blood Cells.

Suemori S, Wada H, Nakanishi H, et al.

BioMed research international 2015; (2015()):451861 doi:10.1155/2015/451861.

Diagnostic tool for red blood cell membrane disorders: Assessment of a new generation ektacytometer.

Da Costa L, Suner L, Galimand J, et al.

Blood cells, molecules & diseases 2016; (56(1)):9-22.

Modeling of band-3 protein diffusion in the normal and defective red blood cell membrane.

Li H, Zhang Y, Ha V, Lykotrafitis G

Soft matter 2016; (12(15)):3643-53 doi:10.1039/c4sm02201g.

A SEVEN-YEAR-OLD MALE WITH CIRCULATING RED BLOOD CELLS SHOWING A THERMAL INJURY-LIKE MORPHOLOGY.

Shackelford R, Ansari J, Veillon D, et al.

The Journal of the Louisiana State Medical Society : official organ of the Louisiana State Medical Society 2016; (168(1)):6-7.

Hereditary Spherocytosis with Splenomegaly and Cholelithiasis in a Young Male of Western Region of Nepal - A Case Report.

Ghimire P, Gurung NV, Shrestha S, et al.

Kathmandu University medical journal (KUMJ) 2015; (13(52)):366-8 doi:10.3126/kumj.v13i4.16839.

Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia.

Lacy JN, Ulirsch JC, Grace RF, et al.

Cold Spring Harbor molecular case studies 2016; (2(4)):a000885 doi:10.1101/mcs.a000885.

Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.

Niss O, Chonat S, Dagaonkar N, et al.

Blood cells, molecules & diseases 2016; (61()):4-9.

Advances in laboratory diagnosis of hereditary spherocytosis.

Farias MG

Clinical chemistry and laboratory medicine 2017; (55(7)):944-948.

Coinheritance of Hereditary Elliptocytosis and Deletional Hemoglobin H Disease.

Charoenkwan P, Natesirinilkul R, Choeyprasert W, et al.

Journal of pediatric hematology/oncology 2017; (39(2)):e69-e70 doi:10.1097/MPH.0000000000000750.

Red cell membrane disorders.

Narla J, Mohandas N

International journal of laboratory hematology 2017; (39 Suppl 1()):47-52 doi:10.1111/ijlh.12657.

Novel mutations in patients with hereditary red blood cell membrane disorders using next-generation sequencing.

He Y, Jia S, Dewan RK, Liao N

Gene 2017; (627()):556-562 doi:10.1016/j.gene.2017.07.009.

Southeast asian ovalocytosis: the need for a carefull observation of red cell indices and blood smear.

Moulin PA, Nivaggioni V, Saut N, et al.

Annales de biologie clinique 2017; (75(6)):699-702 doi:10.1684/abc.2017.1291.

Use of Laser Assisted Optical Rotational Cell Analyzer (LoRRca MaxSis) in the Diagnosis of RBC Membrane Disorders, Enzyme Defects, and Congenital Dyserythropoietic Anemias: A Monocentric Study on 202 Patients.

Zaninoni A, Fermo E, Vercellati C, et al.

Frontiers in physiology 2018; (9()):451 doi:10.3389/fphys.2018.00451.

Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation-Related Autosomal Recessive Distal Renal Tubular Acidosis.

Deejai N, Wisanuyotin S, Nettuwakul C, et al.

Laboratory medicine 2019; (50(1)):78-86 doi:10.1093/labmed/lmy051.

Mechanics of diseased red blood cells in human spleen and consequences for hereditary blood disorders.

Li H, Lu L, Li X, et al.

Proceedings of the National Academy of Sciences of the United States of America 2018; (115(38)):9574-9579 doi:10.1073/pnas.1806501115.

Whole-exome sequencing enables correct diagnosis and surgical management of rare inherited childhood anemia.

Khurana M, Edwards D, Rescorla F, et al.

Cold Spring Harbor molecular case studies 2018; (4(5)) doi:10.1101/mcs.a003152.

Hereditary elliptocytosis-associated alpha-spectrin mutation p.L155dup as a modifier of sickle cell disease severity.

Risinger M, Christakopoulos GE, Schultz CL, et al.

Pediatric blood & cancer 2019; (66(2)):e27531 doi:10.1002/pbc.27531.

Inherited hemolytic anemia: a possessive beginner's guide.

Mohandas N

Hematology. American Society of Hematology. Education Program 2018; (2018(1)):377-381 doi:10.1182/asheducation-2018.1.377.

A novel mutation in SPTA1 identified by whole exome sequencing in a Chinese family for hereditary elliptocytosis presenting with hyperbilirubinemia: A case report.

Xi Y, Wang L, Zhang P, et al.

Medicine 2019; (98(22)):e15800 doi:10.1097/MD.0000000000015800.

Advances in understanding the pathogenesis of red cell membrane disorders.

Iolascon A, Andolfo I, Russo R

British journal of haematology 2019; (187(1)):13-24 doi:10.1111/bjh.16126.

Red Blood Cell AE1/Band 3 Transports in Dominant Distal Renal Tubular Acidosis Patients.

Bertocchio JP, Genetet S, Da Costa L, et al.

Kidney international reports 2020; (5(3)):348-357 doi:10.1016/j.ekir.2019.12.020.

A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome.

Suzuki T, Togawa T, Kanno H, et al.

Journal of pediatric hematology/oncology 2021; (43(2)):e250-e254 doi:10.1097/MPH.0000000000001796.

Expression of South East Asian Ovalocytic Band 3 Disrupts Erythroblast Cytokinesis and Reticulocyte Maturation.

Flatt JF, Stevens-Hernandez CJ, Cogan NM, et al.

Frontiers in physiology 2020; (11()):357 doi:10.3389/fphys.2020.00357.

Clinical Diagnosis of Red Cell Membrane Disorders: Comparison of Osmotic Gradient Ektacytometry and Eosin Maleimide (EMA) Fluorescence Test for Red Cell Band 3 (AE1, SLC4A1) Content for Clinical Diagnosis.

Zaidi AU, Buck S, Gadgeel M, et al.

Frontiers in physiology 2020; (11()):636 doi:10.3389/fphys.2020.00636.

A novel EPB41 p.Trp704* mutation in a Korean patient with hereditary elliptocytosis: a case report.

Shin S, Hwang KA, Paik K, Park J

Hematology (Amsterdam, Netherlands) 2020; (25(1)):321-326 doi:10.1080/16078454.2020.1807227.

Preventing infections in children and adults with asplenia.

Lee GM

Hematology. American Society of Hematology. Education Program 2020; (2020(1)):328-335 doi:10.1182/hematology.2020000117.

Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene.

Cao M, Huang Z, Zhou H, et al.

Journal of clinical laboratory analysis 2021; (35(6)):e23781 doi:10.1002/jcla.23781.

Confounding factors in the diagnosis and clinical course of rare congenital hemolytic anemias.

Fattizzo B, Giannotta JA, Cecchi N, Barcellini W

Orphanet journal of rare diseases 2021; (16(1)):415 doi:10.1186/s13023-021-02036-4.

Role of Partial Splenectomy in Hematologic Childhood Disorders.

Attina' G, Triarico S, Romano A, et al.

Pathogens (Basel, Switzerland) 2021; (10(11)) doi:10.3390/pathogens10111436.

Red cell ektacytometry in two patients with chronic hemolytic anemia and three new α-spectrin variants.

Vives-Corrons JL, Krishnevskaya E, Hernández-Rodriguez I, et al.

Annals of hematology 2022; (101(3)):549-555 doi:10.1007/s00277-021-04723-5.

Unravelling the genetic and phenotypic heterogeneity of SPTA1 gene variants in Hereditary Elliptocytosis and Hereditary Pyropoikilocytosis patients using next-generation sequencing.

Anil More T, Kedar P

Gene 2022; (843()):146796 doi:10.1016/j.gene.2022.146796.

Clinical features and genetic variations of severe neonatal hyperbilirubinemia: Five case reports.

Lin F, Xu JX, Wu YH, et al.

World journal of clinical cases 2022; (10(20)):6999-7005 doi:10.12998/wjcc.v10.i20.6999.

Band 3-mediated Plasmodium vivax invasion is associated with transcriptional variation in PvTRAg genes.

De Meulenaere K, Prajapati SK, Villasis E, et al.

Frontiers in cellular and infection microbiology 2022; (12()):1011692 doi:10.3389/fcimb.2022.1011692.

Asplenia and spleen hypofunction.

Lenti MV, Luu S, Carsetti R, et al.

Nature reviews. Disease primers 2022; (8(1)):71 doi:10.1038/s41572-022-00399-x.

Clinical utility of reticulocyte haemoglobin in the assessment of iron deficiency and iron deficiency anaemia in the paediatric population.

Perchard M, Barbaro P, Rane M, Norman A

Journal of paediatrics and child health 2023; (59(1)):153-158 doi:10.1111/jpc.16265.

A large family of hereditary spherocytosis and a rare case of hereditary elliptocytosis with a novel SPTA1 mutation underdiagnosed in Taiwan: A case report and literature review.

Shih YH, Huang YC, Lin CY, et al.

Medicine 2023; (102(4)):e32708 doi:10.1097/MD.0000000000032708.

[Clinical and gene mutation characteristics of patients with hereditary ellipsocytosis: nine cases report and literature review].

Liu X, Li Y, Zhao X, et al.

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2023; (44(4)):316-320 doi:10.3760/cma.j.issn.0253-2727.2023.04.009.

Overwhelming Post-splenectomy Infection Caused by Escherichia coli 20 Years After Splenectomy: A Case Report.

Abe Y, Itagaki H, Endo T

Cureus 2023; (15(7)):e42184 doi:10.7759/cureus.42184.

Mitapivat reprograms the RBC metabolome and improves anemia in a mouse model of hereditary spherocytosis.

Matte A, Wilson AB, Gevi F, et al.

JCI insight 2023; (8(20)).

Mitapivat: A Review in Pyruvate Kinase Deficiency in Adults.

Zhuang-Yan A, Shirley M

Drugs 2023; (83(17)):1613-1620 doi:10.1007/s40265-023-01961-x.

Homozygous SPTA1-associated hereditary pyropoikilocytosis presenting as hydrops fetalis.

Brancamp R, Hughes CE, Dar A, et al.

Transfusion 2024; (64(1)):189-193 doi:10.1111/trf.17617.

Case report: Whole-exome sequencing for a hereditary elliptocytosis case with an unexpectedly low HbA1c.

Pang L, Zeng Z, Ding Y, et al.

Frontiers in medicine 2023; (10()):1301760 doi:10.3389/fmed.2023.1301760.

A Comprehensive Approach to Neonatal Peripheral Blood Findings of Preterm and Full-term Infants: an Updated Review.

Zare-Badie Z, Bahmei A, Tamaddon G

Clinical laboratory 2024; (70(2)) doi:10.7754/Clin.Lab.2023.230428.

Prevention and treatment of infection in patients with an absent or hypofunctional spleen: A British Society for Haematology guideline.

Ladhani SN, Fernandes S, Garg M, et al.

British journal of haematology 2024; (204(5)):1672-1686 doi:10.1111/bjh.19361.

Designing a single-arm phase 2 clinical trial of mitapivat for adult patients with erythrocyte membranopathies (SATISFY): a framework for interventional trials in rare anaemias - pilot study protocol.

Glenthøj A, van Beers EJ, van Wijk R, et al.

BMJ open 2024; (14(7)):e083691 doi:10.1136/bmjopen-2023-083691.

Trans-acting genetic modifiers of clinical severity in heterozygous β-Thalassemia trait.

Loh JB, Ross JM, Musallam KM, Kuo KHM

Annals of hematology 2024; (103(11)):4437-4447 doi:10.1007/s00277-024-06007-0.

A rare case report of hemolysis in a newborn: hereditary elliptocytosis.

Jiang S, Lu R, Tang J

Frontiers in pediatrics 2024; (12()):1485318 doi:10.3389/fped.2024.1485318.

Hereditary Pyropoikilocytosis as a Modifier of Sickle Cell Disease Severity.

Lantz M, Dolatshahi L

Journal of pediatric hematology/oncology 2025; (47(3)):128-130 doi:10.1097/MPH.0000000000003012.

Purpura fulminans caused by Streptococcus pneumoniae serotype 23A in a young post-splenectomy man: A case report.

Hamasaki A, Yumoto T, Fukushima S, et al.

Journal of infection and chemotherapy : official journal of the Japan Society of Chemotherapy 2025; (31(10)):102791 doi:10.1016/j.jiac.2025.102791.

Genetic Mutations of Congenital Red Cell Membrane Defects in Hydrops Fetalis.

Komvilaisak P, Wichajarn K, Jaruk C, et al.

Fetal diagnosis and therapy 2026; (53(1)):69-77 doi:10.1159/000548041.

Hereditary elliptocytosis in a child with an autosomal recessive SPTA1 mutation: a case report from Saudi Arabia.

Alamr F

Journal of medicine and life 2025; (18(8)):816-820 doi:10.25122/jml-2025-0038.

Homozygous α-Spectrin (SPTA1) Variant Causing Persistent Hereditary Pyropoikilocytosis in a Newborn: A Case Report and Literature Review.

Sayed J, Alabdulhadi AS, Alzahrani WA, et al.

International medical case reports journal 2025; (18()):1303-1309 doi:10.2147/IMCRJ.S483359.

The application of next-generation sequencing technology in congenital haemolytic anaemia: a systematic review and meta-analysis.

Xie S, Zhong Y

Clinical and experimental medicine 2025; (25(1)):368 doi:10.1007/s10238-025-01896-5.