Kalfa Lab

Publications

Warner, MA; Hanson, AC; Johnson, ML; Go, RS; Gajic, O; Schulte, PJ; Kor, DJ; Serra, M; Kalfa, TA; Blanc, L. Longitudinal changes in haemoglobin, iron stores, and inflammatory markers following surgery and in critical illness: an analysis from the Practical Anaemia Bundle for Sustained Blood Recovery randomised clinical trial. British Journal of Anaesthesia. 2025.

Elgammal, Y; Zhang, W; Kalfa, TA. Molecular surprises in evaluations of red cell disorders. Hematology. American Society of Hematology. Education Program. 2025; 2025(1):370-376.

Ammari, O; Shah, M; Elgammal, Y; Husami, A; Kalfa, TA; Gollamudi, J. When a Trait Becomes a Disease: A Rare Hematologic Overlap of Sickle Cell Trait and Hereditary Spherocytosis. American Journal of Hematology. 2025.

Kalfa, TA. The diagnosis and treatment of red cell membrane disorders: algorithm for the general hematologist. Clinical Advances in Hematology and Oncology. 2025; 23(9):534-538.

Zhang, W; Elgammal, Y; Husami, A; Voulgaridou, A; Sakthivel, H; Cannon, M; Bonavita, L; Grimley, M; Heeney, M; Ntoumaziou, A; Risinger, M; Yang, E; Kalfa, T. Transcriptomic analysis uncovers hidden intronic and synonymous pathogenic variants in red cell membrane disorders. Blood. 2025; 146(Supplement 1):282-282.

Rios, CR; Lu, M; Hanson, K; Savidge, E; Ward, T; Korpik, J; Reynaud, M; Ware, R; Kalfa, T; Quinn, C. Imaging flow cytometry for detection of red blood cell inclusions: A quantitative approach to assess splenic filtration function in sickle cell disease. Blood. 2025; 146(Supplement 1):1188.

Ntoumaziou, A; Husami, A; Risinger, M; Elgammal, Y; Voulgaridou, A; Leister, J; Seu, K; Zhang, W; Kalfa, T. Hereditary spherocytic pyropoikilocytosis: Expanding the clinical and genetic spectrum of red blood cell membrane disorders. Blood. 2025; 146(Supplement 1):4667.

Quinn, C; Kincaid, A; Mcelhinney, K; Korpik, J; Kalfa, T; Ware, R. Feasibility, reliability, and accuracy of point-of-care measurements of fetal hemoglobin. Blood. 2025; 146(Supplement 1):4739-4739.

Azucenas, C; Voulgaridou, A; Elgammal, Y; Ntoumaziou, A; Risinger, M; Seu, K; Sen, S; Kottyan, L; Salomonis, N; Kalfa, T. Erythroid-specific, inducible CDAN1∆/∆ mouse model phenocopies congenital dyserythropoietic anemia type-la. Blood. 2025; 146(Supplement 1):186-186.

Hamdan, L; Elgammal, Y; Husami, A; Meznarich, J; Fasipe, F; Chonat, S; Mclemore, M; Schwartz, J; Sahib, S; Mccavit, T; Zhang, W; Lorsbach, R; Niss, O; Kalfa, T. Congenital dyserythropoietic anemia type I: Updated report from the congenital dyserythropoietic anemia registry of North America. Blood. 2025; 146(Supplement 1):4685-4685.

Elgammal, Y; Ntoumaziou, A; Romano, L; Blanc, L; Seu, K; Salomonis, N; Kalfa, T. Characterization of the human erythromyeloblastic islands (EMBIs) Blood. 2025; 146(Supplement 1):182-182.

Hamdan, L; Elgammal, Y; Shova, A; Aygun, B; Quinn, C; Niss, O; Kalfa, T. Biomarkers of ineffective erythropoiesis in patients with transfusion- dependent thalassemia. Blood. 2025; 146(Supplement 1):4684-4684.

Elgammal, Y; Hamdan, L; Risinger, M; Kostantinidis, D; Seu, K; Mcelhinney, K; Niss, O; Nemeth, E; Quinn, C; Ware, R; Kalfa, T. Biomarkers of ineffective erythropoiesis in patients with sickle cell anemia, at baseline and while treated with hydroxyurea, in comparison to patients with other iron-loading red cell disorders. Blood. 2025; 146(Supplement 1):4686.

Hassanzadeh, S; Zeches, BA; Husami, A; Kalfa, TA; Knupp, CL; Richardson, MD. 467 Hereditary predisposition syndrome for myelodysplastic syndrome with SF3B1 mutation; a case report. American Journal of Clinical Pathology. 2025; 164(Supplement_1):aqaf121.272.

Risinger, M; Zhang, W; Kalfa, TA. Advances on the genetic basis of red cell membrane disorders. Current Opinion in Hematology. 2025; 32(5):279-286.

Grimley, M; Davies, SM; Shrestha, A; Shova, A; Asnani, M; Kent, M; Sayani, F; Quinn, CT; Niss, O; Lutzko, C; Witting, S; Latham, T; Bushman, FD; Malik, P. Lentiviral gene therapy with reduced-intensity conditioning for sickle cell disease: a phase 1/2 trial. Nature Medicine. 2025; 31(7):2204-2212.

Davies, SM; Grimley, MS; Shrestha, A; Shova, A; Asnani, M; Kent, M; Sayani, F; Quinn, CT; Niss, O; Lutzko, CM; Witting, S; Latham, T; Bushman, FD; Malik, P. Gene Therapy with Reduced-Intensity Conditioning for Sickle Cell Disease. Transplantation and Cellular Therapy. 2025; 31(2):s2-s3.

Boucher, AA; Dayton, VJ; Pratt, AR; Nassar, NN; Elgammal, Y; Kalfa, TA. Three-generation female cohort with macrocytic anemia and iron overload. American Journal of Hematology. 2025; 100(1):133-138.

Nayak, RC; Emberesh, S; Trump, LR; Wellendorf, AM; Singh, AK; Korkmaz, B; Horwitz, MS; Myers, KC; Kalfa, TA; Lutzko, CM; Cancelas, JA. G-CSF resistance of ELANE-mutant neutropenia depends on SERF1-containing truncated-neutrophil elastase aggregates. Journal of Clinical Investigation. 2024; 135(2).

Gatterdam, C; Emberesh, S; Elgammal, Y; Lutzko, C; Blanc, L; Cancelas, J; Kalfa, TA; Seu, K. The Dominant Negative Acting VPS4AE228Q Mutation Causes Dyserythropoiesis in Human iPSC-Derived Erythroblast Cultures That Phenocopies Cimdag Syndrome-Associated Anemia. Blood. 2024; 144(Supplement 1):2458-2458.

Ntoumaziou, A; Nguyen, D; Elgammal, Y; Husami, A; Zhang, W; Weaver, KD; Kasten, JL; Grier, DD; Zheng, Y; Lutzko, C; Risinger, M; Frayne, J; Seu, K; Kalfa, TA. Loss of ATG5 in Humans Causes Syndromic Congenital Dyserythropoietic Anemia with Impaired Mitophagy in Late Stages of Terminal Erythropoiesis. Blood. 2024; 144(Supplement 1):1084.

Seu, K; Romano, L; Ntoumaziou, A; Stewart, M; Gardner, JC; Paulson, R; Zheng, Y; Kofron, M; Blanc, L; Salomonis, N; Kalfa, TA. Heterogeneity of the Erythromyeloblastic Island (EMBI) Niche during Baseline and Stress Erythropoiesis. Blood. 2024; 144(Supplement 1):163-163.

Azucenas, CR; Voulgaridou, A; Stewart, M; Ntoumaziou, A; Elgammal, Y; Seu, K; Kalfa, TA. Inducible, Erythroid-Specific Knockout of Codanin-1 in Adult Mice Replicates Congenital Dyserythropoietic Anemia Type-Ia. Blood. 2024; 144(Supplement 1):1071.

Sadaf, A; Dong, M; Pfeiffer, A; Korpik, J; Kalfa, TA; Latham, T; Vinks, AA; Ware, RE; Quinn, CT. A pharmacokinetic-pharmacodynamic analysis of l-glutamine for the treatment of sickle cell disease: Implications for understanding the mechanism of action and evaluating response to therapy. British Journal of Haematology. 2024; 205(3):1147-1158.

Saraf, SL; Hagar, R; Idowu, M; Osunkwo, I; Cruz, K; Kuypers, FA; Brown, RC; Geib, J; Ribadeneira, M; Schroeder, P; Wu, E; Forsyth, S; Kelly, PF; Kalfa, TA; Telen, MJ. Multicenter, phase 1 study of etavopivat (FT-4202) treatment for up to 12 weeks in patients with sickle cell disease. Blood advances. 2024; 8(16):4459-4475.

Harms, FL; Rexach, JE; Efthymiou, S; Aynekin, B; Per, H; Güleç, A; Nampoothiri, S; Sampaio, H; Sachdev, R; Stoeva, R; Chard, M; Klassen, M; Pries, M; Kutsche, K. Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth. European Journal of Human Genetics. 2024; 32(5):558-566.

Sekyonda, Z; An, R; Goreke, U; Man, Y; Monchamp, K; Bode, A; Zhang, Q; El-Gammal, Y; Kityo, C; Kalfa, TA; Akkus, O; Gurkan, UA. Rapid measurement of hemoglobin-oxygen dissociation by leveraging Bohr effect and Soret band bathochromic shift. The Analyst. 2024; 149(9):2561-2572.

Kocoshis, TS; Kalfa, TA; Miethke, AG; Balistreri, WF; Seu, KG; Slaughter, CG; Singh, R; Mullen, M; Kocoshis, SA. Red cell abnormalities characterized by ektacytometry in children with cholestasis. Pediatric Research. 2024; 95(4):1035-1040.

Al-Samkari, H; Shehata, N; Lang-Robertson, K; Bianchi, P; Glenthøj, A; Sheth, S; Neufeld, EJ; Rees, DC; Chonat, S; Kuo, KHM; Watson, A; Elbard, R; Peereboom, D; Grace, RF. Diagnosis and management of pyruvate kinase deficiency: international expert guidelines. The Lancet Haematology. 2024; 11(3):e228-e239.

Sadaf, A; Dong, M; Pfeiffer, A; Latham, T; Kalfa, T; Vinks, AA; Ware, RE; Quinn, CT. A Population Pharmacokinetic Analysis of L-Glutamine Exposure in Patients with Sickle Cell Disease: Evaluation of Dose and Food Effects. Clinical Pharmacokinetics. 2024; 63(3):357-365.

Coppola, T; Hughes, H; Finch, P; Hess, J; Wu, S; Prada, C; Miethke, AG; Zhang, W; Kalfa, TA. Case Report: Childhood Erythrocytosis due to Hypermanganesemia Caused by Homozygous SLC30A10 Mutation. Frontiers in Hematology. 2024; 3.

Ceolan, J; Seu, K; Ntoumaziou, A; Elgammal, Y; Emberesh, S; Bilston, L; Richards, D; Dickerson, KE; Chonat, S; Rydz, N; Lutzko, C; Husami, A; Zhang, W; Kalfa, TA. Erythrocyte Disorders Mimicking Congenital Dyserythropoietic Anemia Based on Bone Marrow Pathology Exposed By Genetic Evaluation. Blood. 2023; 142(Supplement 1):2459.

Josselsohn, R; Vagrecha, A; Lapan, M; Papoin, J; Kamen, J; Cho, YM; Rao, R; Romano, L; Salomonis, N; Kalfa, TA; Blanc, L; Barnes, BJ. Irf5 Expression in Macrophages Contributes to Iron Regulation within Erythromyeloblastic Islands. Blood. 2023; 142(Supplement 1):920.

Romano, L; Ntoumaziou, A; Gardner, JC; Stewart, M; Paulson, R; Salomonis, N; Blanc, L; Seu, K; Kalfa, TA. Leveraging Transcriptomic Data to Study Erythromyeloblastic Island (EMBI) Macrophages: Using Spic-GFP As a Marker for Embi Macrophages. Blood. 2023; 142(Supplement 1):3832.

Sadaf, A; Dong, M; Korpik, J; Pfeiffer, A; Kalfa, TA; Latham, TS; Vinks, AA; Ware, RE; Quinn, CT. Effects of L-Glutamine on Biomarkers of Response in Sickle Cell Disease: A Pharmacokinetics-Pharmacodynamics Analysis. Blood. 2023; 142(Supplement 1):1145.

Sekyonda, Z; Kityo, C; Elgammal, Y; Kalfa, TA; Akkus, O; Gurkan, UA. Rapid Assessment of Hemoglobin-Oxygen Dissociation. Blood. 2023; 142(Supplement 1):2270.

Bilston, L; Uminski, K; Kalfa, TA; Husami, A; Goodyear, MD; Rydz, N. A Novel Beta Globin Frameshift Mutation Causing Autosomal Dominant Beta Thalassemia. Blood. 2023; 142(Supplement 1):1105.

Azucenas, CR; Stewart, M; Voulgaridou, A; Seu, K; Kalfa, TA. Inducible Knockout of Codanin-1: An Adult Mouse Model of Congenital Dyserythropoietic Anemia Type-I. Blood. 2023; 142(Supplement 1):2450.

Elgammal, Y; Risinger, M; Husami, A; Walden, J; Gupta, S; Shah, NC; Boyer, J; Abajas, YL; Winstead, M; Miller, DW; Lorsbach, R; Zhang, W; Kalfa, TA; Niss, O. Congenital Dyserythropoietic Anemia Type II: An Update from the Congenital Dyseryhtropoietic Anemia Registry of North America (CDAR) Blood. 2023; 142(Supplement 1):1079.

Maria, NI; Papoin, J; Raparia, C; Sun, Z; Josselsohn, R; Lu, A; Katerji, H; Syeda, MM; Polsky, D; Paulson, R; Kalfa, T; Barnes, BJ; Zhang, W; Blanc, L; Davidson, A. Human TLR8 induces inflammatory bone marrow erythromyeloblastic islands and anemia in SLE-prone mice. Life Science Alliance. 2023; 6(10).

Risinger, M; Kim, PS; Rodriguez, RX; Narvaez Rivas, M; Setchell, KDR; Zhang, W; Kalfa, TA. Hemolytic anemia and macrothrombocytopenia: A lipid problem? American Journal of Hematology. 2023; 98(8):1335-1340.

Romano, L; Seu, KG; Blanc, L; Kalfa, TA. Crosstalk between terminal erythropoiesis and granulopoiesis within their common niche: the erythromyeloblastic island. Current Opinion in Hematology. 2023; 30(4):99-105.

Josselsohn, R; Barnes, BJ; Kalfa, TA; Blanc, L. Navigating the marrow sea towards erythromyeloblastic islands under normal and inflammatory conditions. Current Opinion in Hematology. 2023; 30(3):80-85.

Yenwongfai, LN; Arora, R; Smith, AP; Kalfa, T; Husami, A; Radulescu, V; Myers, K; Lorsbach, R. Pediatric myelofibrosis due to compound heterozygous MPIG6B mutations in a patient of European ancestry. Pediatric Blood and Cancer. 2023; 70(3):e30023.

Hernández, G; Romero-Cortadellas, L; Ferrer-Cortès, X; Venturi, V; Dessy-Rodriguez, M; Olivella, M; Husami, A; De Soto, CP; Morales-Camacho, RM; Villegas, A; Pérez-Montero, S; Tornador, C; Segovia, J-C; Sánchez, M. Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III. Haematologica. 2023; 108(2):581-587.

Voulgaridou, A; Elgammal, Y; Husami, A; Emberesh, S; Seu, K; Ramamoorthy, M; Trump, L; Barasa, N; Nelson, AS; Lorsbach, RB; Romano, L; Salomonis, NA; Zhang, W; Lutzko, C; Kalfa, TA. De Novo Germline DHX38 Variant Associated with Alternative Splicing of Multiple Transcripts in Iron-Related Pathways in a Patient with Atypical Congenital Dyserythropoietic Anemia with Ring Sideroblasts. Blood. 2022; 140(Supplement 1):1234-1235.

Seu, K; Voulgaridou, A; Stewart, M; Meznarich, J; Johnson, C; Junge, H; Mackenzie, B; Blanc, L; Cancelas, JA; Kalfa, TA. Dominant-Negative VPS4A Mutations Causing Congenital Dyserythropoietic Anemia Disrupt Iron Trafficking of Terminal Erythropoiesis. Blood. 2022; 140(Supplement 1):8190-8191.

Romano, L; Seu, KG; Papoin, J; Muench, DE; Konstantinidis, D; Olsson, A; Schlum, K; Chetal, K; Chasis, JA; Mohandas, N; Grimes, HL; Salomonis, N; Blanc, L; Kalfa, TA. Erythroblastic islands foster granulopoiesis in parallel to terminal erythropoiesis. Blood. 2022; 140(14):1621-1634.

Gibson, SJ; Kalfa, TA; Destefano, CB. Insane in the membrane: A case of hereditary spherocytic pyropoikilocytosis. American Journal of Hematology. 2022; 97(10):1384-1385.

Bello, A; Casanova, A; Arias, A; Kalfa, T; Kussick, S. Poster: MPN-024 Hypereosinophilic Syndrome: A Catastrophic Pediatric Case. Clinical Lymphoma, Myeloma and Leukemia. 2022; 22:s160.

Bello, A; Casanova, A; Arias, A; Kalfa, T; Kussick, S. MPN-024 Hypereosinophilic Syndrome: A Catastrophic Pediatric Case. Clinical Lymphoma, Myeloma and Leukemia. 2022; 22 Suppl 2:S322.

T., C; A., L; R., B; T., K; J., K; J., B; C., T; K., W; S., S. P‐055: TRIAL IN PROGRESS: A PHASE 2, OPEN‐LABEL STUDY EVALUATING THE SAFETY AND EFFICACY OF THE ERYTHROCYTE PYRUVATE KINASE ACTIVATOR ETAVOPIVAT IN PATIENTS WITH THALASSEMIA OR SICKLE CELL DISEASE. HemaSphere. 2022; 6(Suppl):43-44.

M., T; R., B; R., H; M., I; I., O; T., K; F., K; J., G; P., S; E., W; P., K; S., S. O‐03: ETAVOPIVAT TREATMENT FOR UP TO 12 WEEKS IN PATIENTS WITH SICKLE CELL DISEASE IS WELL TOLERATED AND IMPROVES RED BLOOD CELL HEALTH. HemaSphere. 2022; 6(Suppl):2-3.

Tu, Z; Fan, C; Davis, AK; Hu, M; Wang, C; Dandamudi, A; Seu, KG; Kalfa, TA; Lu, QR; Zheng, Y. Autism-associated chromatin remodeler CHD8 regulates erythroblast cytokinesis and fine-tunes the balance of Rho GTPase signaling. Cell reports. 2022; 40(2):111072.

Noomuna, P; Hausman, JM; Sansoya, R; Kalfa, T; Risinger, M; Low, PS. Rapid degradation of protein tyrosine phosphatase 1B in sickle cells: Possible contribution to sickle cell membrane weakening. The FASEB Journal. 2022; 36(6):e22360.

Forsyth, S; Schroeder, P; Geib, J; Vrishabhendra, L; Konstantinidis, DG; Lasalvia, K; Ribadeneira, MD; Wu, E; Kelly, P; Kalfa, TA. Safety, Pharmacokinetics, and Pharmacodynamics of Etavopivat (FT-4202), an Allosteric Activator of Pyruvate Kinase-R, in Healthy Adults: A Randomized, Placebo-Controlled, Double-Blind, First-in-Human Phase 1 Trial. Clinical Pharmacology in Drug Development. 2022; 11(5):654-665.

Schroeder, P; Fulzele, K; Forsyth, S; Ribadeneira, MD; Guichard, S; Wilker, E; Marshall, CG; Drake, A; Fessler, R; Konstantinidis, DG; Seu, KG; Kalfa, TA. Etavopivat, a Pyruvate Kinase Activator in Red Blood Cells, for the Treatment of Sickle Cell Disease. Journal of Pharmacology and Experimental Therapeutics. 2022; 380(3):210-219.

Tseng, SY; Gao, Z; Kalfa, TA; Ollberding, NJ; Tabbah, S; Keller, R; Cnota, JF. Altered erythropoiesis in newborns with congenital heart disease. Pediatric Research. 2022; 91(3):606-611.

Noel, JG; Ramser, SW; Pitstick, L; Bonamer, JP; Mackenzie, B; Seu, KG; Kalfa, TA; Cancelas, JA; Gardner, JC. M-CSF supports medullary erythropoiesis and erythroid iron demand following burn injury through its activity on homeostatic iron recycling. Scientific Reports. 2022; 12(1):1235.