Kalfa Lab

Kalfa Lab

Seu, KG; Trump, LR; Emberesh, S; Lorsbach, RB; Johnson, C; Meznarich, J; Underhill, HR; Chou, ST; Sakthivel, H; Nassar, NN; et al. 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.

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; et al. 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; et al. 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; et al. 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; et al. 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; et al. 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; et al. 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; et al. 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.

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.

M., T; R., B; R., H; M., I; I., O; T., K; F., K; J., G; P., S; E., WU; et al. 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; 6:02-03.

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; et al. 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; et al. 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; et al. 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; et al. 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; et al. 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; et al. 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.

Seu, KG; Trump, LR; Emberesh, S; Lorsbach, RB; Johnson, C; Meznarich, J; Underhill, HR; Chou, ST; Sakthivel, H; Nassar, NN; et al. 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.

Remiker, A; Haslam, D; Kalfa, TA. A painless erythematous swelling of the external ear as a manifestation of Lyme disease: a case report. Journal of Medical Case Reports. 2020; 14:48.

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 Therapeutic Response to Early Initiation of Hydroxyurea in Young Children with Sickle Cell Anemia. Blood. 2020; 136:16-17.

Rai, P; Roy, S; Konstantinidis, DG; Ponny, SR; Mpollo, ME M; Shrestha, A; Kalfa, TA; Malik, P. Angiotensin Signaling Is Essential for Stress Erythropoiesis but Results in Retention of Dysfunctional Mitochondria in Erythrocytes That Generate Excessive Reactive Oxygen Species. Blood. 2020; 136:31-32.

Brown, RC; Cruz, K; Kalfa, TA; Kuypers, FA; Saraf, SL; Estepp, JH; Smart, LR; Malik, P; Lerman, M; Mayer, R; et al. FT-4202, an Allosteric Activator of Pyruvate Kinase-R, Demonstrates Proof of Mechanism and Proof of Concept after a Single Dose and after Multiple Daily Doses in a Phase 1 Study of Patients with Sickle Cell Disease. Blood. 2020; 136:19-20.

Rothman, JA; Stevens, JL; Gray, FL; Kalfa, TA. How I approach hereditary hemolytic anemia and splenectomy. Pediatric Blood and Cancer. 2020; 67:e28337.

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

Hall, BJ; Reiter, AJ; Englum, BR; Rothman, JA; Rice, HE. LONG-TERM HEMATOLOGIC AND CLINICAL OUTCOMES OF SPLENECTOMY IN CHILDREN WITH HEREDITARY SPHEROCYTOSIS AND SICKLE CELL DISEASE. Pediatric Blood and Cancer. 2020; 67:e28290.

Noomuna, P; Risinger, M; Zhou, S; Seu, K; Man, Y; An, R; Sheik, DA; Wan, J; Little, JA; Gurkan, UA; et al. Inhibition of Band 3 tyrosine phosphorylation: a new mechanism for treatment of sickle cell disease. British Journal of Haematology. 2020; 190:599-609.

Barnes, BJ; Vagrecha, A; LaPan, M; Kalfa, TA; Blanc, L. Novel role(s) for Irf5 in controlling myelopoiesis and erythropoiesis. Journal of immunology (Baltimore, Md. : 1950). 2020; 204:63.1.

Niss, O; Lorsbach, RB; Buchbinder, DK; Chonat, S; McLemore, ML; McCavit, T; Schwartz, JH; Meznarich, J; Seu, K; Zhang, W; et al. Congenital Dyserythropoietic Anemia Type I Due to Biallelic CDAN1 mutations: Report from the Congenital Dyserythropoietic Anemia Registry (CDAR). Blood. 2019; 134:3521.

McGann, PT; Niss, O; Dong, M; Marahatta, A; Howard, TA; Mizuno, T; Lane, A; Kalfa, TA; Malik, P; Quinn, CT; et al. Robust clinical and laboratory response to hydroxyurea using pharmacokinetically guided dosing for young children with sickle cell anemia. American Journal of Hematology. 2019; 94:871-879.

Chonat, S; Risinger, M; Sakthivel, H; Niss, O; Rothman, JA; Hsieh, L; Chou, ST; Kwiatkowski, JL; Khandros, E; Gorman, MF; et al. The Spectrum of SPTA1-Associated Hereditary Spherocytosis. Frontiers in Physiology. 2019; 10:815.

Risinger, M; Emberesh, M; Kalfa, TA. Rare Hereditary Hemolytic Anemias: Diagnostic Approach and Considerations in Management. Hematology/Oncology Clinics of North America. 2019; 33:373-392.