Selected paper of SWG members during 2017

Peroxiredoxin-2 plays a pivotal role as multimodal cytoprotector in the early phase of pulmonary hypertension.
Federti E, Matté A, Ghigo A, Andolfo I, James C, Siciliano A, Leboeuf C, Janin A, Manna F, Choi SY, Iolascon A, Beneduce E, Melisi D, Kim DW, Levi S, De Franceschi L.
Free Radic Biol Med. 2017 Nov;112:376-386. doi: 10.1016/j.freeradbiomed.2017.08.004. Epub 2017 Aug 9. 

Peroxiredoxin-2: A Novel Regulator of Iron Homeostasis in Ineffective Erythropoiesis.
Matte A, De Falco L, Federti E, Cozzi A, Iolascon A, Levi S, Mohandas N, Zamo A, Bruno M, Lebouef C, Janin A, Siciliano A, Ganz T, Federico G, Carlomagno F, Mueller S, Silva I, Carbone C, Melisi D, Kim DW, Choi SY, De Franceschi L.
Antioxid Redox Signal. 2018 Jan 1;28(1):1-14. doi: 10.1089/ars.2017.7051. Epub 2017 Sep 6. 

Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis.
Al-Riyami AZ, Iolascon A, Al-Zadjali S, Andolfo I, Al-Mammari S, Manna F, Al Rawas A, King MJ, Russo R.
Am J Hematol. 2017 Oct;92(10):E607-E609. doi: 10.1002/ajh.24853. Epub 2017 Jul 29. No abstract available. 

Diagnosis and molecular characterization of a novel α0 -thalassemia deletion (-Kozani) found in a Greek child with unexplained microcytic hypochromic anemia.
Makis A, Georgiou I, Traeger-Synodinos J, Chaliasos N, Grosso M, Gambale A, Iolascon A.
Int J Lab Hematol. 2017 Oct;39(5):e124-e126. doi: 10.1111/ijlh.12690. Epub 2017 Jun 12. No abstract available. 

GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II.
Russo R, Andolfo I, Gambale A, De Rosa G, Manna F, Arillo A, Wandroo F, Bisconte MG, Iolascon A.
Haematologica. 2017 Sep;102(9):e371-e374. doi: 10.3324/haematol.2016.162966. Epub 2017 May 26. No abstract available. 

Recommendations regarding splenectomy in hereditary hemolytic anemias.
Iolascon A, Andolfo I, Barcellini W, Corcione F, Garçon L, De Franceschi L, Pignata C, Graziadei G, Pospisilova D, Rees DC, de Montalembert M, Rivella S, Gambale A, Russo R, Ribeiro L, Vives-Corrons J, Martinez PA, Kattamis A, Gulbis B, Cappellini MD, Roberts I, Tamary H; Working Study Group on Red Cells and Iron of the EHA.
Haematologica. 2017 Aug;102(8):1304-1313. doi: 10.3324/haematol.2016.161166. Epub 2017 May 26.

Clinical management of iron deficiency anemia in adults: Systemic review on advances in diagnosis and treatment.
De Franceschi L, Iolascon A, Taher A, Cappellini MD.
Eur J Intern Med. 2017 Jul;42:16-23. doi: 10.1016/j.ejim.2017.04.018. Epub 2017 May 18. Review. 

The immunophilin FKBP12 inhibits hepcidin expression by binding the BMP type I receptor ALK2 in hepatocytes.
Colucci S, Pagani A, Pettinato M, Artuso I, Nai A, Camaschella C, Silvestri L.
Blood. 2017 Nov 9;130(19):2111-2120. doi: 10.1182/blood-2017-04-780692. Epub 2017 Sep 1.

Iron deficiency across chronic inflammatory conditions: International expert opinion on definition, diagnosis, and management.
Cappellini MD, Comin-Colet J, de Francisco A, Dignass A, Doehner W, Lam CS, Macdougall IC, Rogler G, Camaschella C, Kadir R, Kassebaum NJ, Spahn DR, Taher AT, Musallam KM; IRON CORE Group.
Am J Hematol. 2017 Oct;92(10):1068-1078. doi: 10.1002/ajh.24820. Epub 2017 Jul 7. Review.

A new form of IRIDA due to combined heterozygous mutations of TMPRSS6 and ACVR1A encoding the BMP receptor ALK2.
Pagani A, Colucci S, Bocciardi R, Bertamino M, Dufour C, Ravazzolo R, Silvestri L, Camaschella C.
Blood. 2017 Jun 22;129(25):3392-3395. doi: 10.1182/blood-2017-03-773481. Epub 2017 May 5. No abstract available.

Clinical significance of somatic mutation in unexplained blood cytopenia.
Malcovati L, Gallì A, Travaglino E, Ambaglio I, Rizzo E, Molteni E, Elena C, Ferretti VV, Catricalà S, Bono E, Todisco G, Bianchessi A, Rumi E, Zibellini S, Pietra D, Boveri E, Camaschella C, Toniolo D, Papaemmanuil E, Ogawa S, Cazzola M.
Blood. 2017 Jun 22;129(25):3371-3378. doi: 10.1182/blood-2017-01-763425. Epub 2017 Apr 19.

New insights into iron deficiency and iron deficiency anemia.
Camaschella C.
Blood Rev. 2017 Jul;31(4):225-233. doi: 10.1016/j.blre.2017.02.004. Epub 2017 Feb 13. Review.

Induction of iron excess restricts malignant plasma cells expansion and potentiates bortezomib effect in models of multiple myeloma.
Bordini J, Galvan S, Ponzoni M, Bertilaccio MT, Chesi M, Bergsagel PL, Camaschella C, Campanella A.
Leukemia. 2017 Apr;31(4):967-970. doi: 10.1038/leu.2016.346. Epub 2016 Nov 24. No abstract available.

Iron Overload and Chelation Therapy in Non-Transfusion Dependent Thalassemia.
Bou-Fakhredin R, Bazarbachi AH, Chaya B, Sleiman J, Cappellini MD, Taher AT.
Int J Mol Sci. 2017 Dec 20;18(12). pii: E2778. doi: 10.3390/ijms18122778. Review.

New therapeutic targets in transfusion-dependent and -independent thalassemia.
Cappellini MD, Motta I.
Hematology Am Soc Hematol Educ Program. 2017 Dec 8;2017(1):278-283. doi: 10.1182/asheducation-2017.1.278. Review. 

Real-life experience with hydroxyurea in sickle cell disease: A multicenter study in a cohort of patients with heterogeneous descent.
Rigano P, De Franceschi L, Sainati L, Piga A, Piel FB, Cappellini MD, Fidone C, Masera N, Palazzi G, Gianesin B, Forni GL; Italian Multicenter Study of Hydroxyurea in Sickle Cell Anemia Investigators.
Blood Cells Mol Dis. 2018 Mar;69:82-89. doi: 10.1016/j.bcmd.2017.08.017. Epub 2017 Oct 9.

Treatment of hepatitis C virus infection with direct-acting antiviral drugs is safe and effective in patients with hemoglobinopathies.
Origa R, Ponti ML, Filosa A, Galeota Lanza A, Piga A, Saracco GM, Pinto V, Picciotto A, Rigano P, Madonia S, Rosso R, D'Ascola D, Cappellini MD, D'Ambrosio R, Tartaglione I, De Franceschi L, Gianesin B, Di Marco V, Forni GL; Italy for THAlassemia and hepatitis C Advance - Società Italiana Talassemie ed Emoglobinopatie (ITHACA-SITE).
Am J Hematol. 2017 Dec;92(12):1349-1355. doi: 10.1002/ajh.24911. Epub 2017 Oct 19.

Progression of liver fibrosis can be controlled by adequate chelation in transfusion-dependent thalassemia (TDT).
Maira D, Cassinerio E, Marcon A, Mancarella M, Fraquelli M, Pedrotti P, Cappellini MD.
Ann Hematol. 2017 Nov;96(11):1931-1936. doi: 10.1007/s00277-017-3120-9. Epub 2017 Sep 5.

Thalassaemia.
Taher AT, Weatherall DJ, Cappellini MD.
Lancet. 2018 Jan 13;391(10116):155-167. doi: 10.1016/S0140-6736(17)31822-6. Epub 2017 Jul 31. Review.

Transcranial color Doppler in stroke-free adult patients with sickle cell disease.
Graziadei G, Casoni FM, Annoni F, Cortinovis I, Ridolfi P, Gandolfi I, Marcon A, Di Pierro E, Cappellini MD.
Ann Hematol. 2017 Sep;96(9):1547-1555. doi: 10.1007/s00277-017-3071-1. Epub 2017 Jul 20.

Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group.
Concolino D, Amico L, Cappellini MD, Cassinerio E, Conti M, Donati MA, Falvo F, Fiumara A, Maccarone M, Manna R, Matucci A, Musumeci MB, Nicoletti A, Nisticò R, Papadia F, Parini R, Peluso D, Pensabene L, Pisani A, Pistone G, Rigoldi M, Romani I, Tenuta M, Torti G, Veroux M, Zachara E.
Mol Genet Metab Rep. 2017 Jun 22;12:85-91. doi: 10.1016/j.ymgmr.2017.06.005. eCollection 2017 Sep.

Decompensated Cirrhosis and Sickle Cell Disease: Case Reports and Review of the Literature.
D'Ambrosio R, Maggioni M, Donato MF, Lampertico P, Cappellini MD, Graziadei G.
Hemoglobin. 2017 Mar;41(2):131-133. doi: 10.1080/03630269.2017.1341420. Review.

Iron deficiency across chronic inflammatory conditions: International expert opinion on definition, diagnosis, and management.
Cappellini MD, Comin-Colet J, de Francisco A, Dignass A, Doehner W, Lam CS, Macdougall IC, Rogler G, Camaschella C, Kadir R, Kassebaum NJ, Spahn DR, Taher AT, Musallam KM; IRON CORE Group.
Am J Hematol. 2017 Oct;92(10):1068-1078. doi: 10.1002/ajh.24820. Epub 2017 Jul 7. Review.

Investigational drugs in phase I and phase II clinical trials for thalassemia.
Motta I, Scaramellini N, Cappellini MD.
Expert Opin Investig Drugs. 2017 Jul;26(7):793-802. doi: 10.1080/13543784.2017.1335709. Epub 2017 Jun 5. Review.