Kalfa Lab

Publications

Seu, KG; Trump, LR; Emberesh, S; Lorsbach, RB; Johnson, C; Meznarich, J; Underhill, HR; Chou, ST; Sakthivel, H; Nassar, NN; Seu, KJ; Blanc, L; Zhang, W; Lutzko, CM; Kalfa, TA. VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects. The American Journal of Human Genetics. 2020; 107:1149-1156.

Risinger, M; Kalfa, TA. Red cell membrane disorders: structure meets function. Blood. 2020; 136:1250-1261.

Konstantinidis, DG; Pushkaran, S; Johnson, JF; Cancelas, JA; Manganaris, S; Harris, CE; Williams, DA; Zheng, Y; Kalfa, TA. Signaling and cytoskeletal requirements in erythroblast enucleation. Blood. 2012; 119:6118-6127.

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. The Journal of Clinical Investigation. 2025; 135:e177342.

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; 100:133-138.

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; 144:1084.

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; 144:2458.

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; 144:163.

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; 144:1071.

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; 205:1147-1158.

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; 8:4459-4475.

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; 32:558-566.

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; 149:2561-2572.

Coppola, T; Hughes, H; Finch, PT; Hess, JA; Wu, S; Prada, CE; Miethke, AG; Zhang, W; Kalfa, TA. Case report: Childhood erythrocytosis due to hypermanganesemia caused by homozygous SLC30A10 mutation. 2024; 3:1331485.

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; 63:357-365.

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

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; 95:1035-1040.

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; 142:2450.

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; 142:920.

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

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; 142:3832.

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; 142:2459.

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; 142:1079.

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; 142:1105.

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; 142:1145.

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:e202302241.

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

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; 30:99-105.

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; 30:80-85.

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: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, JC; Sánchez, M. Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III. Haematologica: the hematology journal. 2023; 108:581-587.

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; 12:1235.

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; 140:1234-1235.

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; 140:8190-8191.

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; 140:1621-1634.

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.

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

M., T; R., B; R., H; M., I; I., O; T., K; F., K; J., G; P., S; E., WU; 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; 6:2-3.

T., C; A., LA 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; 6:43-44.

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; 40:111072.

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 : official publication of the Federation of American Societies for Experimental Biology. 2022; 36: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; 11:654-665.

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. The Journal of pharmacology and experimental therapeutics. 2022; 380:210-219.

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; 91:606-611.

Kalfa, TA. Diagnosis and clinical management of red cell membrane disorders. Hematology-American Society of Hematology Education Program. 2021; 2021:331-340.

Gutierrez, M; Shamoun, M; Seu, KG; Tanski, T; Kalfa, TA; Eniola-Adefeso, O. Characterizing bulk rigidity of rigid red blood cell populations in sickle-cell disease patients. Scientific Reports. 2021; 11:7909.

Sadaf, A; Quinn, CT; Korpik, JB; Pfeiffer, A; Reynaud, M; Niss, O; Malik, P; Ware, RE; Kalfa, TA; McGann, PT. Rapid and automated quantitation of dense red blood cells: A robust biomarker of hydroxyurea treatment response. Blood Cells, Molecules, and Diseases. 2021; 90:102576.

Quinn, CT; Niss, O; Dong, M; Pfeiffer, A; Korpik, J; Reynaud, M; Bonar, H; Kalfa, TA; Smart, LR; Malik, P; Ware, RE; Vinks, AA; McGann, PT. Early initiation of hydroxyurea (hydroxycarbamide) using individualised, pharmacokinetics-guided dosing can produce sustained and nearly pancellular expression of fetal haemoglobin in children with sickle cell anaemia. British Journal of Haematology. 2021; 194:617-625.

Newby, GA; Yen, JS; Woodard, KJ; Mayuranathan, T; Lazzarotto, CR; Li, Y; Sheppard-Tillman, H; Porter, SN; Yao, Y; Mayberry, K; Pruett-Miller, SM; Tsai, SQ; Weiss, MJ; Liu, DR. Base editing of haematopoietic stem cells rescues sickle cell disease in mice. Nature. 2021; 595:295-302.

Karkoska, K; Todd, K; Niss, O; Clapp, K; Fenchel, L; Kalfa, TA; Malik, P; Quinn, CT; Ware, RE; McGann, PT. Implementation of near-universal hydroxyurea uptake among children with sickle cell anemia: A single-center experience. Pediatric Blood and Cancer. 2021; 68:e29008.

Sadaf, A; Seu, KG; Thaman, E; Fessler, R; Konstantinidis, DG; Bonar, HA; Korpik, J; Ware, RE; McGann, PT; Quinn, CT; Kalfa, TA. Automated Oxygen Gradient Ektacytometry: A Novel Biomarker in Sickle Cell Anemia. Frontiers in Physiology. 2021; 12:636609.

Niss, O; Lorsbach, RB; Berger, M; Chonat, S; McLemore, M; Buchbinder, D; McCavit, T; Shaffer, LG; Simpson, J; Schwartz, JH; Ritchey, AK; Underhill, HR; Ravindranath, Y; Shah, NC. Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR). Blood Cells, Molecules, and Diseases. 2021; 87:102534.

Brindley, EC; Papoin, J; Kennedy, L; Robledo, RF; Ciciotte, SL; Kalfa, TA; Peters, LL; Blanc, L. Rasa3 regulates stage-specific cell cycle progression in murine erythropoiesis. Blood Cells, Molecules, and Diseases. 2021; 87:102524.

Kim, S; Khoriaty, R; Li, L; McClune, M; Kalfa, TA; Wu, J; Peltier, D; Fujiwara, H; Sun, Y; Oravecz-Wilson, K; King, RA; Ginsburg, D; Reddy, P. ER-to-Golgi transport and SEC23-dependent COPII vesicles regulate T cell alloimmunity. The Journal of Clinical Investigation. 2021; 131:e136574.

Voulgaridou, A; Kalfa, TA. Autoimmune Hemolytic Anemia in the Pediatric Setting. Journal of Clinical Medicine. 2021; 10:E216.