References
- Papers of special note have been highlighted as:
- ● of interest
- ●● of considerable interest
- Embury SH, Miller JA, Dozy AM, et al. Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype. J Clin Invest. 1980;66(6):1319–1325.
- Hess JF, Schmid CW, Shen CK. A gradient of sequence divergence in the human adult alpha-globin duplication units. Science. 1984;226(4670):67–70.
- Lauer J, Shen CK, Maniatis T. The chromosomal arrangement of human alpha-like globin genes: sequence homology and α-globin gene deletions. Cell. 1980;20(1):119–130.
- Higgs DR. The molecular basis of α-thalassemia. In: Steinberg MH, Forget BG, Higgs DR, et al., editors. Disorders of hemoglobin genetics, pathophysiology, and clinical management. 2nd ed. Cambridge: Cambridge University Press; 2001. p. 405–430.
- Rugless MJ, Fisher CA, Old JM, et al. A large deletion in the human alpha-globin cluster caused by a replication error is associated with an unexpectedly mild phenotype. Hum Mol Genet. 2008;17(19):3084–3093.
●●Similar studies in other populations describing clinical observations in non-deletional Hb H patients
- Harteveld CL, Losekoot M, Haak H, et al. A novel polyadenylation signal mutation in the alpha 2-globin gene causing alpha thalassaemia. Br J Haematol. 1994;87(1):139–143.
- Higgs DR, Goodbourn SE, Lamb J, et al. Alpha-thalassaemia caused by a polyadenylation signal mutation. Nature. 1983;306(5941):398–400.
- Yuregir GT, Aksoy K, Curuk MA, et al. Hb H disease in a Turkish family resulting from the interaction of a deletional alpha thalassaemia-1 and a newly discovered poly A mutation. Br J Haematol. 1992;80(4):527–532.
- Chui DHK. Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis. Ann N Y Acad Sci. 2005;1054:25–32.
- Galanello R, Paglietti E, Melis MA, et al. Hemoglobin inclusions in heterozygous alpha-thalassemia according to their alpha-globin genotype. Acta Haematol. 1984;72(1):34–36.
- Ingram VM, Stretton AO. Genetic basis of the thalassaemia diseases. Nature. 1959;184(19):1903–1909.
- Ebrahimkhani S, Azarkeivan A, Bayat N, et al. Genotype-phenotype correlation in Iranian patients with Hb H Disease. Hemoglobin. 2011;35(1):40–46.
● Previous studies on clinical variation in Hb H disease
- Laosombat V, Viprakasit V, Chotsampancharoen T, et al. Clinical features and molecular analysis in Thai patients with Hb H disease. Ann Hematol. 2009;88(12):1185–1192.
- Higgs DR. Alpha-Thalassaemia. Baillieres Clin Haematol. 1993;6:117–150.
- Chan V, Chan VW-Y, Tang M, et al. Molecular defects in Hb H hydrops fetalis. Br J Haematol. 1997;96:224–228.
- Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215.
- Baysal E, Huisman THJ. Detection of common deletional α-thalassemia-2 determinants by PCR. Am J Hematol. 1994;46(3):208–213.
- ViennaLab product brochure [Internet]. 2014. Available from: http://www.viennalab.com/filemanager/docu-ments/
●●Previous studies in Iranian population or other populations showing the importance of hemoglobin variants in Hb H disease
- Farashi S, Faramarzi Garous N, Zeinali F, et al. 21 nucleotide duplication in alpha1/alpha2 globin gene involves in a variety of hypochromic microcytic anemia from mild to Hb H disease. Hemoglobin. 2015 15;39(3):196–200. DOI:10.3109/03630269.2015.1030757.
- Bernini L. Geographic distribution of α-thalassemia. In: Steinberg MH, Forget BG, Higgs DR, et al., editors. Disorders of hemoglobin genetics, pathophysiology, and clinical management. Cambridge: Cambridge University Press; 2001. p. 878–894.
- Ho PJ, Rochette J, Rees DC, et al. Hb Sun Prairie: diagnostic pitfalls in thalassemic hemoglobinopathies. Hemoglobin. 1996;20(2):103–112.
- Chui DHK, Fucharoen S, Chan V. Hemoglobin H disease: not necessarily a benign disorder. Blood. 2003;101:791–800.
- Chen FE, Ooi C, Ha SY, et al. Genetic and clinical features of hemoglobin H disease in Chinese patients. N Engl J Med. 2000;343(8):544–550.
- Cohen AR, Galanello R, Pennell DJ, et al. Thalassemia. Hematology Am Soc Hematol Educ Program. 2004;1:14–34.
- Lau YL, Chan LC, Chan YY, et al. Prevalence and genotypes of alpha- and beta-thalassemia carriers in Hong Kong – implications for population screening. N Engl J Med. 1997;336(18):1298–1301.
- Lorey F, Charoenkwan P, Witkowska HE, et al. Hb H hydrops foetalis syndrome: a case report and review of literature. Br J Haematol. 2001;115(1):72–78.
●Introduction on Phenotype-genotype correlation of different genotypes contributing to Hb H disease
- Galanello R, Pirastu M, Melis MA, et al. Phenotypegenotype correlation in haemoglobin H disease in childhood. J Med Genet. 1983;20(6):425–429.
- Kattamis C, Tzotzos S, Kanavakis E, et al. Correlation of clinical phenotype to genotype in haemoglobin H disease. Lancet. 1988;1(8583):442–444.
- Origa R, Sollaino MC, Giagu N, et al. Clinical and molecular analysis of haemoglobin H disease in Sardinia: haematological, obstetric and cardiac aspects in patients with different genotypes. Br J Haematol. 2007;136(2):326–332.
- Trent RJ, Wilkinson T, Yakas J, et al. Molecular defects in 2 examples of severe Hb H disease. Scand J Haematol. 1986;36(3):272–279.
●●Previous studies in Iranian population or other populations showing the importance of some hemoglobin variants or point mutations in Hb H disease
- Farashi S, Garous NF, Ashki M, et al. Homozygosis for the AATA(α AA)polyadenylation site mutation on the α2-globin gene causing transfusion dependent Hb H disease in an Iranian patient: a case report. Hemoglobin. 2015;39(5):355–358.
- Farashi S, Garous NF, Ashki M, et al. Hb Dartmouth (HBA2: c.200T>C): an α2-globin gene associated with Hb H disease in one homozygous patient. Hemoglobin. 2015;1539(3):152–155.
- Wajcman H, Traeger-Synodinos J, Papassotiriou I, et al. Unstable and thalassemic alpha chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia. Hemoglobin. 2008;32(4):327–349.
- Hadavi V, Jafroodi M, Hafezi-Nejad N, et al. Alpha-thalassemia mutations in Gilan Province, North Iran. Hemoglobin. 2009;33(3):235–241.
- Bayat N, Farashi S, Hafezi-Nejad N, et al. Novel mutations responsible for α-thalassemia in Iranian families. Hemoglobin. 2013;37(2):148–159.
- Tamaddoni A, Hadavi V, Nejad NH, et al. alpha-Thalassemia mutation analyses in Mazandaran province, North Iran. Hemoglobin. 2009;33(2):115–123.
●●Previous studies on the same reported hemoglobin variants in subjects with Hb H disease
- Cürük MA, Dimovski AJ, Baysal E, et al. Hb Adana or alpha 2(59)(E8)Gly–>Asp beta 2, a severely unstable alpha 1-globin variant, observed in combination with the -(alpha) 20.5 Kb alpha-thal-1 deletion in two Turkish patients. Am J Hematol. 1993;44(4):270–275.
- Harkness M, Harkness DR, Kutlar F, et al. Hb Sun Prairie or alpha(2)130(H13)Ala – pro beta 2, a new unstable variant occurring in low quantities. Hemoglobin. 1990;14(5):479–489.
- Plaseska D, Gu LH, Wilson JB, et al. Hb Sun Prairie or alpha(2)130(H13)Ala – pro beta 2; second observation in an Indian adult. Hemoglobin. 1990;14(5):491–497.
- Higgs DR, Vickers MA, Wilkie AO, et al. A review of the molecular genetics of the human alpha-globin gene cluster. Blood. 1989;73(5):1081–1104.
- Tabone P, Henni T, Belhani M, et al. Hemoglobin H disease from Algeria: genetic and molecular characterization. Acta Haematol. 1981;65(1):26–31.
- Pressley L, Higgs DR, Clegg JB, et al. New genetic basis for hemoglobin-H disease. N Engl J Med. 1980;303(24):1383–1388.
- Azarkeivan A, Neishabury M, Hadavi V, et al. A report of 8 cases with hemoglobin H disease in an Iranian family. Pediatr Hematol Oncol. 2010;27(5):405–412.