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Ann Hematol 2022 Mar 29;101(3):549-555. Epub 2021 Nov 29.

Hematology Department, Hospital Universitari de La Santa Creu i Sant Pau, Barcelona, Spain.

Red blood cell (RBC) morphology is, in general, the key diagnostic feature for hereditary spherocytosis (HS) and hereditary elliptocytosis (HE). However, in hereditary pyropoikilocytosis (HPP), the severe clinical form of HE, the morphological diagnosis is difficult due to the presence of a RBC morphological picture characterized by a mixture of elliptocytes, spherocytes, tear-drop cells, and fragmented cells. This difficulty increases in new-borns and/or patients requiring frequent transfusions, making impossible the prediction of the disease course or its severity. Read More

Am J Hematol 2022 04 29;97(4):506-507. Epub 2021 Sep 29.

Centre for Haematology, St Mary's Hospital Campus of Imperial College Faculty of Medicine, St Mary's Hospital, London, UK.

Pediatr Blood Cancer 2021 10 12;68(10):e29181. Epub 2021 Jun 12.

Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Am J Hematol 2021 05 25;96(5):E150-E154. Epub 2021 Feb 25.

Hematology, University of Utah & Huntsman Cancer Center, Salt Lake City, Utah.

Front Physiol 2020 19;11:636. Epub 2020 Jun 19.

Children's Hospital of Michigan, Detroit, MI, United States.

The measurement of band 3 (AE1, SLC4A1, CD233) content of red cells by eosin-5- maleimide (EMA) staining is swiftly replacing conventional osmotic fragility (OF) test as a tool for laboratory confirmation of hereditary spherocytosis across the globe. Our group has systematically evaluated the EMA test as a method to screen for a variety of anemias in the last 10 years, and compared these results to those obtained with the osmotic gradient ektacytometry (osmoscans) which we have used over three decades. Our overall experience allowed us to characterize the distinctive patterns with the two tests in several congenital erythrocyte membrane disorders, such as hereditary spherocytosis (HS), hereditary elliptocytosis (HE), Southeast Asian Ovalocytosis (SAO), hereditary pyropoikilocytosis (HPP) variants, erythrocyte volume disorders, various red cell enzymopathies, and hemoglobinopathies. Read More

Blood Cells Mol Dis 2020 11 25;85:102462. Epub 2020 Jun 25.

Division of Neonatology, Department of Pediatrics, University of Utah Health, Salt Lake City, UT, United States of America; Division of Hematology/Oncology, Department of Pediatrics, University of Utah Health, Salt Lake City, UT, United States of America.

Dizygotic twin males, born at 34 weeks gestation, had prolonged jaundice, microcytic, hypochromic anemia, FABarts hemoglobin, elevated end-tidal CO, and blood films consistent with hereditary pyropoikilocytosis. DNA sequencing revealed both had a heterozygous alpha spectrin (SPTA1) mutation (c.460_462dup) inherited from their asymptomatic mother, plus a 3-base pair duplication in alpha globin (HBA2) (c. Read More

Ann Biol Clin (Paris) 2020 06;78(3):343

Service d'hématologie biologique, CHU de Rouen, Rouen, France.

J Pediatr Hematol Oncol 2021 03;43(2):e250-e254

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya.

Hereditary pyropoikilocytosis is a subtype of hereditary elliptocytosis because of biallelic mutations of SPTA1, SPTB, and EPB41. The authors present a proband with neonatal jaundice and hemolytic anemia, with poikilocytosis in the blood film. Targeted next-generation sequencing identified Q267del trans to the αLELY allele in SPTA1. Read More

Indian J Pediatr 2020 01 10;87(1):66-74. Epub 2019 Dec 10.

Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India.

Hemolytic anemias are a group of disorders with varied clinical and molecular heterogeneity. They are characterized by decreased levels of circulating erythrocytes in blood. The pathognomic finding is a reduced red cell life span with severe anemia or, compensated hemolysis accompanied by reticulocytosis. Read More

Br J Haematol 2019 10 31;187(1):13-24. Epub 2019 Jul 31.

Department of Molecular Medicine and Medical Biotechnologies, Federico II" University of Naples, Naples, Italy.

Hereditary erythrocyte membrane disorders are caused by mutations in genes encoding various transmembrane or cytoskeletal proteins of red blood cells. The main consequences of these genetic alterations are decreased cell deformability and shortened erythrocyte survival. Red blood cell membrane defects encompass a heterogeneous group of haemolytic anaemias caused by either (i) altered membrane structural organisation (hereditary spherocytosis, hereditary elliptocytosis, hereditary pyropoikilocytosis and Southeast Asian ovalocytosis) or (ii) altered membrane transport function (overhydrated hereditary stomatocytosis, dehydrated hereditary stomatocytosis or xerocytosis, familial pseudohyperkalaemia and cryohydrocytosis). Read More

Hematol Transfus Cell Ther 2020 Jan - Mar;42(1):87-89. Epub 2019 Apr 29.

Academia de Ciência e Tecnologia (AC&T), São José do Rio Preto, SP, Brazil.

J Clin Invest 2019 04 30;129(7):2878-2887. Epub 2019 Apr 30.

Department of Pediatrics.

The etiology of severe hemolytic anemia in most patients with recessive hereditary spherocytosis (rHS) and the related disorder hereditary pyropoikilocytosis (HPP) is unknown. Whole exome sequencing of DNA from probands of 24 rHS or HPP kindreds identified numerous mutations in erythrocyte membrane α-spectrin (SPTA1). Twenty-eight mutations were novel, with null alleles frequently found in trans to missense mutations. Read More

Pediatr Blood Cancer 2019 02 4;66(2):e27531. Epub 2018 Nov 4.

Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

The broad phenotypic variability among individuals with sickle cell disease (SCD) suggests the presence of modifying factors. We identified two unrelated SCD patients with unusually severe clinical and laboratory phenotype that were found to carry the hereditary elliptocytosis-associated alpha-spectrin mutation c.460_462dupTTG (p. Read More

Clin Chim Acta 2018 Dec 11;487:311-317. Epub 2018 Oct 11.

Department of Laboratory Medicine, China Medical University Hospital, China Medical University, Taichung, Taiwan; Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan; School of Medicine, China Medical University, Taichung, Taiwan; Department of Bioinformatics and Medical Engineering, Asia University, Taichung, Taiwan; Center for Precision Medicine, China Medical University Hospital, Taichung, Taiwan. Electronic address:

Purpose: Congenital hemolytic anemia caused by red blood cell (RBC) membrane defects is a heterogeneous group of disorders. The present study aimed to search the causative gene mutations in patients with RBC membrane disorders in Taiwan.

Materials And Methods: Next-generation sequencing approach using whole-exome sequencing (WES) was performed. Read More

Br J Haematol 2019 05 10;185(3):578-582. Epub 2018 Sep 10.

Center of Excellence for Medical Genomics, Department of Paediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

Am J Hematol 2018 10 26;93(10):E340-E342. Epub 2018 Sep 26.

Service d'Hématologie Biologique, CHU Bicêtre, AP-HP, Le Kremlin-Bicêtre, France.

Blood 2018 01;131(1):153

Children's Mercy Hospital.

Blood 2017 12;130(25):2808

Centre Hospitalier Universitaire Nancy.

Am J Hematol 2017 10 29;92(10):E607-E609. Epub 2017 Jul 29.

Department of Molecular Medicine and Medical Biotechnology, University Federico II, Naples, Italy.

Clin Pediatr (Phila) 2018 Jan 15;57(1):19-26. Epub 2017 Jan 15.

1 University of Utah, Salt Lake City, UT, USA.

Various mutations in the genes encoding alpha spectrin (SPTA1) or beta spectrin (SPTB) are known to cause erythrocyte membrane disorders, sometimes associated with severe neonatal jaundice and anemia. We used a next-generation sequencing panel to evaluate 3 unrelated neonates who had puzzling cases of nonimmune hemolytic jaundice. In each case, we identified novel mutations in either SPTA1 or SPTB. Read More

Blood Cells Mol Dis 2016 10 17;61:4-9. Epub 2016 Jul 17.

Division of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

Hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) are heterogeneous red blood cell (RBC) membrane disorders that result from mutations in the genes encoding α-spectrin (SPTA1), β-spectrin (SPTB), or protein 4.1R (EPB41). The resulting defects alter the horizontal cytoskeletal associations and affect RBC membrane stability and deformability causing shortened RBC survival. Read More

S D Med 2016 May;69(5):208-209

Department of Pathology, University of South Dakota Sanford School of Medicine.

J La State Med Soc 2016 Jan-Feb;168(1):6-7. Epub 2016 Feb 15.

Dr. Cotelingam is associated with the Department of Pathology.

A seven-year-old African-American male presented with a history of hematuria, proteinuria, jaundice, and anemia occasionally treated with transfusions since early childhood. The family history included a father and sister with similar symptoms of anemia, both of which had been diagnosed with hereditary pyropoikilocytosis. Due to the patient's family history and symptoms indicating a possible hematologic problem, a blood draw was performed. Read More

Clin Genet 2016 07 15;90(1):69-78. Epub 2016 Mar 15.

Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.

The aim of this study was to describe the mutational characteristics in Korean hereditary spherocytosis (HS) patients. Relevant literatures including genetically confirmed cases with well-documented clinical summaries and relevant information were also reviewed to investigate the mutational gene- or domain-specific laboratory and clinical association. Twenty-five HS patients carried one heterozygous mutation of ANK1 (n = 13) or SPTB (n = 12) but not in SPTA1, SLC4A1, or EPB42. Read More

Biomed Res Int 2015 18;2015:451861. Epub 2015 Oct 18.

Department of Laboratory Medicine, Kawasaki Medical School, Kurashiki, Japan.

Flow cytometric test for analyzing the eosin-5-maleimide (EMA) binding to red blood cells has been believed to be a specific method for diagnosing hereditary spherocytosis (HS). However, it has been reported that diseases other than HS, such as hereditary pyropoikilocytosis (HPP) and Southeast Asian ovalocytosis (SAO), which are forms in the category of hereditary elliptocytosis (HE), show decreased EMA binding to red blood cells. We analyzed EMA binding to red blood cells in 101 healthy control subjects and 42 HS patients and obtained a mean channel fluorescence (MCF) cut-off value of 36. Read More

Turk J Haematol 2016 Mar 6;33(1):86-7. Epub 2015 Aug 6.

Hacettepe University Faculty of Medicine, Department of Pediatric Hematology, Ankara, Turkey. E-mail:

Int J Lab Hematol 2015 Jun 18;37(3):304-25. Epub 2015 Mar 18.

Membrane Biochemistry, NHS Blood and Transplant, Bristol, UK.

Introduction: Hereditary spherocytosis (HS), hereditary elliptocytosis (HE), and hereditary stomatocytosis (HSt) are inherited red cell disorders caused by defects in various membrane proteins. The heterogeneous clinical presentation, biochemical and genetic abnormalities in HS and HE have been well documented. The need to raise the awareness of HSt, albeit its much lower prevalence than HS, is due to the undesirable outcome of splenectomy in these patients. Read More

Pediatr Clin North Am 2013 Dec 15;60(6):1349-62. Epub 2013 Oct 15.

Department of Pediatrics, Yale University School of Medicine, 333 Cedar Street, PO Box 208064, New Haven, CT 06520-8064, USA. Electronic address:

Primary abnormalities of the erythrocyte membrane are characterized by clinical, laboratory, and genetic heterogeneity. Among this group, hereditary spherocytosis patients are more likely to experience symptomatic anemia. Treatment of hereditary spherocytosis with splenectomy is curative in most patients. Read More

Neonatology 2014 31;105(1):1-4. Epub 2013 Oct 31.

Department of Women and Newborns, Intermountain Healthcare, Salt Lake City, Utah, USA.

We cared for a neonate who had problematic hyperbilirubinemia born into a family where nine first-degree relatives had hereditary elliptocytosis (HE). As neonates, the nine relatives did not have any significant jaundice or anemia that was recognizable. Blood films on the proband suggested a diagnosis of pyropoikilocytosis. Read More