ANNEXE REFERENCES
346. Harteveldt CL, Versteeegh FG, Kok PJ, et al. Hb Bleuland [alpha108(G15)Thr Asn, ACC AAC (alpha2)]: a new abnormal hemoglobin associated with a mild alpha-thalassemia phenotype. Hemoglobin. 2006; 30:349-354 347. Harteveldt CL, Vervloet M, Zweegman S, et al. Hb Amsterdam [alpha32(B13)Met Ile (alpha2)]: a new unstable variant associated with an alpha-thalassemia phenotype and a new African polymorphism. Hemoglobin. 2006; 29:257-262 348. Harteveldt CL, Rozendal L, Blom NA, et al. Hb Oegstgeest [alpha104(G11)Cys Ser (alpha1)]. A new hemoglobin variant associated with a mild alpha-thalassemia phenotype. Hemoglobin. 2005: 29:165-169 349. Harteveldt CL, van Delft P, Plug R, et al. Hb Groene Hart: a new Pro Ser amino acid substitution at position 119 of the alpha1-globin chain is associated with a mild alpha-thalassemia phenotype. Hemoglobin. 2002; 26:255-260 350. Harteveldt CL, Wijermans PW, van Delft P, et al. An alpha-thalassemia phenotype in a Dutch Hindustani, caused by a new point mutation that creates an alternative splice donor site in the first exon of the alpha2-globin gene. Hemoglobin. 2004; 28:255-259 351. Noguera NI, Gonzalez FA, Davoli RA, et al. A novel splice acceptor site mutation of the alpha2-globin gene causing alpha-thalassemia. Hemoglobin. 2001; 25:311-315 352. Martin G, Villegas A, Gonzalez FA, et al. A novel mutation of the alpha2-globin causing alpha(+)-thalassemia: Hb Plasencia [alpha125(H8)Leu Arg (alpha2). Hemoglobin. 2005; 29:113-117 353. Harteveldt CL, van Delft P, Wijermans PW, et al. A novel 7.9 kb deletion causing alpha+-thalassaemia in two independent families of Indian origin. Br J Haematol. 2003; 120:364-365. 354. Viprakasit V, Tanphaichitr VS, Veerakul G, et al. Co-inheritance of Hb Pak Num Po, a novel alpha1 gene mutation, and alpha0 thalassemia associated with transfusion-dependent Hb H disease. Am J Hematol. 2004; 75:157-163 355. Basran RK, Reiss UM, Luo HY, et al. Beta-thalassemia intermedia due to compound heterozygosity for two betaglobin gene promoter mutations, including a novel TATA box deletion. Pediatr Blood Cancer. 2006; 50:363-366. 356. Pereira FJ, do Ceu Silva M, Pianco T, et al. Human alpha2-globin nonsense-mediated mRNA decay induced by a novel alpha-thalassaemia frameshift mutation at codon 22. Br J Haematol. 2006; 133:98-102. 357. Knott M, Ramadan KM, Savage G, et al. Novel and Mediterranean beta thalassemia mutations in the indigenous Northern Ireland population. Blood Cells Mol Dis. 2006; 36:265-268 358. Mo QH, Li XR, Li CF, et al. A novel frameshift mutation (+G) at codons 15/16 in a beta0 thalassaemia gene results in a significant reduction of beta globin mRNA values. J Clin Pathol. 2005; 58:923-926. 359. De Angioletti M, Lacerra G, Sabato V, et al. Beta+45 G C: a novel silent beta-thalassaemia mutation, the first in the Kozak sequence. Br J Haematol. 2004; 124:224-231. 360. Blacklock HA, Case J, Chan T, et al. Novel sequence insertion in a Maori patient with transfusion-dependent beta thalassemia Br J Haematol. 2005; 131:400-402. 361. Kornblit B, Taaning P, Birgens H. Beta-thalassemia due to a novel nonsense mutation at codon 37 (TGG→TAG) found in an Afghanistani family. Hemoglobin. 2004; 29:209-213 362. Moi P, Faa V, Marini et al (2004)A novel silent beta-thalassemia mutation in the distal CACCC box affects the binding and responsiveness to EKLF. Br J Haematol. , 126, 881-884. 363. Akar E, Ozdemir S, Hakki Timur T, Akar N. First observation of homozygous hemoglobin hamadan (B 56 (D7) GLYARG) and beta thalassemia (-29 G A)- hemoglobin Hamadan combination in a Turkish family. Am J Hematol. 2003; 74:280-282 364. Gupta A, Hattori Y, Gupta UR, et al. Molecular genetic testing of beta-thalassemia patients of Indian origin and a novel 8-bp deletion mutation at codons 36/37/38/39. Genet Test. 2003; 7:163-168 365. Park SS, Cho HI. Beta-thalassemia in the Korean population. Int J Haematol. 2002; 76, Suppl 2: 93-95. 366. Shaji RV, Srivastava A, Krishnamoorthy R, Chandy M. Coexistence of a novel beta-globin gene deletion (codons 8187) with the codon 30 (G C) mutation in an Indian patient with beta0-thalassemia. Hemoglobin. 2002: 26:237-243 367. Keser I, Kayaisli OG, Yesilipek A, et al. Hb Antalya [codons 3-5 (Leu-Thr-Pro Ser-Asp-Ser)]: a new unstable variant leading to chronic microcytic anemia and high Hb A2. Hemoglobin. 2001; 25:369-373 368. Ma SK, Lee AC, Chan AY, Chan LC. A novel AATAAA CATAAA mutation at the polyadenylation site of the beta-globin gene. Br J Haematol. 2001; 115:230-231. 369. Bardakdjian-Micau J, Fucharoen S, Delanoe-Garin, et al. Hemoglobin Dhonburi alpha 2 beta 2 126 (H4) Val Gly: a new unstable beta variant producing a beta-thalassemia intermedia phenotype in association with beta zero-thalassemia. Am J Hematol. 1990; 35:96-99 370. Lorey F, Charoenkwan P, Witkowaska HE, et al. Hb H hydrops foetalis syndrome: a case report and review of literature. Br J Haematol. 2001; 115:72-78.
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