Aplastic Crisis Revealing the Diagnosis of Hb Evans [α62(E11)Val→Met, GTG→ATG (α2)] in a Hispanic Kindred: Case Report and Review

REFERENCES

• Benz E, Jr. Hemoglobin variants associated with hemolytic anemia, altered oxygen affinity, and methemoglobinemia. Hematology: Basic Principles and Practice, 4th, R Hoffman, EJ Benz, Jr, SJ Shattil, B Furie, HJ Cohen, LE Silberstein, P McGlave. Elsevier, Philadelphia 2005; 645–691
   Google Scholar
• Nagel RL. Disorders of hemoglobin function and stability. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management, MH Steinberg, BG Forget, DR Higgs, RL Nagel. Cambridge University Press, Cambridge 2001; 1155–1194
   Google Scholar
• Wilson JB, Webber BB, Kutlar A, Reese AL, McKie VC, Lutcher CL, Felice AE, Huisman THJ. Hb Evans or α262(E11)Val→Met; an unstable hemoglobin causing a mild hemolytic anemia. Hemoglobin 1989; 13(6)557–566
   PubMed Web of Science ®Google Scholar
• Molchanova TP, Pobedimskaya DD, YuV Postnikov. A simplified procedure for sequencing amplified DNA containing the α2- or α1-globin gene. Hemoglobin 1994; 18(3)251–255
   PubMed Web of Science ®Google Scholar
• Gonzalez-Redondo JM, Stoming TA, Kutlar F, Kutlar A, McKie VC, McKie KM, Huisman THJ. Severe Hb S-β0-thalassaemia with a T→C substitution in the donor splice site of the first intron of the β-globin gene. Br J Haematol 1989; 71(1)113–117
   PubMed Web of Science ®Google Scholar
• Rees DC, Rochette J, Schofield C, Green B, Morris M, Parker NE, Sasaki H, Tanaka A, Ohba Y, Clegg JB. A novel, silent posttranslational mechanism converts methionine to aspartate in Hemoglobin Bristol (β67[E11]Val-Met→Asp). Blood 1996; 88(1)341–348
   PubMed Web of Science ®Google Scholar
• Abbey E, Gutierrez F, Chaplin H, Blinder M, Lacy J, Storch G, Clutter W, Atkinson J. A 19-year-old woman with severe anemia. Am J Med 1998; 104(2)200–209
   PubMedGoogle Scholar
• McLellan NJ, Rutter N. Hereditary spherocytosis in sisters unmasked by parvovirus infection. Postgrad Med J 1987; 63(735)49–50
   PubMedGoogle Scholar
• Ng JP, Cumming RL, Horn EH, Hogg RB. Hereditary spherocytosis revealed by human parvovirus infection. Br J Haematol 1987; 65(3)379–380
   PubMedGoogle Scholar
• Kitazawa J, Tono C, Terui K, Otomo H, Ito E, Hattori Y, Ohba Y, Yokoyama M. Sporadic case of Hemoglobin Bushwick detected by chance in aplastic crisis. Pediatr Int 2000; 42(2)160–163
   PubMedGoogle Scholar
• Lacan P, Kister J, Francina A, Souillet G, Galacteros F, Delaunay J, Wajcman H. Hemoglobin Debrousse (β96[FG3]Leu→Pro): a new unstable hemoglobin with twofold increased oxygen affinity. Am J Hematol 1996; 51(4)276–281
   PubMed Web of Science ®Google Scholar
• Geva A, Clark JJ, Zhang Y, Popowicz A, Manning JM, Neufeld EJ. Hemoglobin Jamaica Plain–a sickling hemoglobin with reduced oxygen affinity. N Engl J Med 2004; 351(15)1532–1538
   PubMed Web of Science ®Google Scholar
• Martinez G, Carnot J, Hernandez P. Hb Genova in a Cuban family. Clinical differences between carriers. Hemoglobin 1983; 7(6)591–594
   PubMed Web of Science ®Google Scholar
• Garel MC, Blouquit Y, Rosa J, Arous N, Romero Garcia C. Hemoglobin Castilla β32(B14)Leu→Arg: a new unstable variant producing severe hemolytic disease. FEBS Lett 1975; 58(1)145–148
   Web of Science ®Google Scholar
• Villegas A, Malcorra JJ, Balda I, Calero F, Porres A, Alvarez-Sala JL, Espinos D. A new Spanish family with Hb Louisville. Am J Med Genet 1989; 32(1)9–14
   PubMed Web of Science ®Google Scholar
• Tejuca M, Martinez G, Mendez J, Quintero I, Felicetti L, Colombo B. Association of Hb Toulouse with Hb S in a Nicaraguan Girl. Hemoglobin 1987; 11(1)43–46
   PubMed Web of Science ®Google Scholar
• de Weinstein BI, White JM, Wiltshire BG, Lehmann H. A new unstable haemoglobin: Hb Buenos Aires, β85(F1)Phe→Ser. Acta Haematol 1973; 50(6)357–363
   PubMed Web of Science ®Google Scholar
• de Weinstein BI, Plaseska-Karanfilska D, Efremov GD. Hb Saint Etienne or Hb Istanbul [β92(F8)His→Glu] found in an Argentinean family. Hemoglobin 2000; 24(2)149–152
   PubMed Web of Science ®Google Scholar
• Outeirino J, Casey R, White JM, Lehmann H. Haemoglobin Madrid β115(G17)Alanine→Proline: an unstable variant associated with haemolytic anaemia. Acta Haematol 1974; 52(1)53–60
   PubMedGoogle Scholar
• Weinstein BI, Erramouspe B, Albuquerque DM, Oliveira DM, Kimura EM, Costa FF, Sonati MF. Hb Florida: a novel elongated C-terminal β-globin variant causing dominant β-thalassemia phenotype. Am J Hematol 2006; 81(5)358–360
   PubMed Web of Science ®Google Scholar
• Sciarratta GV, Ivaldi G, Moruzzi F. Hb J-Guantanamo in a Chilean baby. Hemoglobin 1990; 14(1)115–117
   PubMed Web of Science ®Google Scholar
• Zago MA, Costa FF. Hereditary haemoglobin disorders in Brazil. Trans R Soc Trop Med Hyg 1985; 79(3)385–388
   PubMedGoogle Scholar
• Schroeder WA, Powars D, Shelton JB, Shelton JR, Wilson JB, Huisman THJ, Bedros AA. An unusual phenotype expression of Hb Leiden. Biochem Genet 1982; 20(11–12)1175–1187
   PubMedGoogle Scholar
• Hoyer JD, Baxter JK, Moran AM, Kubic KS, Ehmann WC. Two unstable β chain variants associated with β-thalassemia: Hb Miami [β116(G18)His→Pro], and Hb Hershey [β70(E14)Ala→Gly], and a second unstable Hb variant at β17: Hb Abington [β70(E14)Ala→Pro]. Hemoglobin 2005; 29(4)241–248
   PubMed Web of Science ®Google Scholar
• Wilson JB, Webber BB, Hu H, Kutlar A, Kutlar F, Codrington JF, Prchal JT, Hall KM, de Pablos JM, Rodriguez I, Huisman THJ. Hemoglobin Birmingham and Hemoglobin Galicia: two unstable β chain variants characterized by small deletions and insertions. Blood 1990; 75(9)1883–1887
   PubMedGoogle Scholar
• Arends T, Lehmann H, Plowman D, Stathopoulou R. Haemoglobin North Shore-Caracas β134 (H12) valine→glutamic acid. FEBS Lett 1977; 80(2)261–265
   PubMedGoogle Scholar
• Malcorra-Azpiazu JJ, Wilson JB, Molchanova TP, Pobedimskaya DD, Huisman THJ. Hb Porto Alegre or α2β29(A6)Ser→Cys in unrelated families of the Canary Islands. Hemoglobin 1993; 17(5)457–461
   PubMed Web of Science ®Google Scholar
• Villegas A, Wilson JB, Chen SS, Calero F, Reinares L, Huisman THJ, Espinos D. Haemoglobin Presbyterian (β108(G10)Asn→Lys) in a Spanish family. Acta Haematol 1986; 76: 2–3; 161–163, 1986:
   Google Scholar
• Eandi Eberle S, Noguera NI, Sciuccati G, Bonduel M, Diaz L, Staciuk R, Feliu-Torres A. Hb Southampton [β106(G8)Leu→Pro, CTG→CCG] in an Argentinean boy. Hemoglobin 2006; 30(3)401–403
   PubMed Web of Science ®Google Scholar
• Villegas A, Martin G, Wilson JB, Webber BB, Hu H, Kutlar A, Kutlar F, Huisman THJ. Hb Extremadura or α2β2133(H11)Val→Leu, a new mildly unstable hemoglobin in a Spanish female. Hemoglobin 1989; 13(5)505–508
   PubMed Web of Science ®Google Scholar
• Malcorra-Azpiazu JJ, Balda-Aguirre MI, Diaz-Chico JC, Hu H, Wilson JB, Webber BB, Kutlar F, Kutlar A, Huisman THJ. Hb Las Palmas or α2β249(CD8)Ser→Phe, a mildly unstable hemoglobin variant. Hemoglobin 1988; 12(2)163–170
   PubMed Web of Science ®Google Scholar
• Ayala S, Colomer D, Pujades M, Aymerich M, Vives Corrons JL. Haemoglobin Lleida: a new α2globin variant (12bp deletion) with mild thalassaemic phenotype. Br J Haematol 1996; 94(4)639–644
   PubMed Web of Science ®Google Scholar
• Ayala S, Colomer D, Gelpi JL, Corrons JL. α-Thalassemia due to a single codon deletion in the α1-globin gene. Computational structural analysis of the new α-chain variant. Hum Mutat 1998; 11(5)412–413
   PubMedGoogle Scholar
• Rahbar S, Lee C, Fairbanks VF, McCormick DJ, Kubik K, Madden BJ, Nozari G. Hb Watts [α74(EF3) or α75(EF4)Asp→0]: a shortened α chain variant due to the deletion of three nucleotides in exon 2 of the α2-globin gene. Hemoglobin 1997; 21(4)321–330
   PubMed Web of Science ®Google Scholar