Genomes and Genes
Summary: Hemoglobins characterized by structural alterations within the molecule. The alteration can be either absence, addition or substitution of one or more amino acids in the globin part of the molecule at selected positions in the polypeptide chains.
- Charoenkwan P, Sirichotiyakul S, Chanprapaph P, Tongprasert F, Taweephol R, Sae Tung R, et al. Anemia and hydrops in a fetus with homozygous hemoglobin constant spring. J Pediatr Hematol Oncol. 2006;28:827-30 pubmed..Intrauterine transfusions were given which rendered a favorable outcome. This report demonstrates an unusual and serious in utero complication in a fetus with Hb CS/CS...
- Chui D. Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis. Ann N Y Acad Sci. 2005;1054:25-32 pubmed..These findings underscore the public health importance of these hereditary disorders, and they call for better education, diagnosis, treatment, prevention, and research for these diseases...
- Vichinsky E. Changing patterns of thalassemia worldwide. Ann N Y Acad Sci. 2005;1054:18-24 pubmed..Comprehensive services that address language and social barriers as well as access to Hb F-enhancing agents and transfusions are needed. ..
- Wajcman H, Galacteros F. Hemoglobins with high oxygen affinity leading to erythrocytosis. New variants and new concepts. Hemoglobin. 2005;29:91-106 pubmed..Other mechanisms leading to erythrocytosis are discussed, and finally, an algorithm is proposed for etiological diagnosis. ..
- Arnon S, Tamary H, Dgany O, Litmanovitz I, Regev R, Bauer S, et al. Hydrops fetalis associated with homozygosity for hemoglobin Taybe (alpha 38/39 THR deletion) in newborn triplets. Am J Hematol. 2004;76:263-6 pubmed..We suggest that hemoglobin Taybe be considered in the differential diagnosis of hydrops fetalis and that known affected fetuses be carefully followed both antenatally and postnatally. ..
- Suwanrath Kengpol C, Kor anantakul O, Suntharasaj T, Leetanaporn R. Etiology and outcome of non-immune hydrops fetalis in southern Thailand. Gynecol Obstet Invest. 2005;59:134-7 pubmed..We suggest that an effective thalassemia-screening program for prevention and control of homozygous alpha-thalassemia-1 be established in all areas where the alpha-thalassemia-1 gene is prevalent. ..
- Clegg J, Weatherall D, Contopolou Griva I, Caroutsos K, Poungouras P, Tsevrenis H. Haemoglobin Icaria, a new chain-termination mutant with causes alpha thalassaemia. Nature. 1974;251:245-7 pubmed
- Honig G, Shamsuddin M, Zaizov R, Steinherz M, Solar I, Kirschmann C. Hemoglobin Petah Tikva (alpha 110 ala replaced by asp): a new unstable variant with alpha-thalassemia-like expression. Blood. 1981;57:705-11 pubmed
- Zhou X, Ha S, Chan G, Luk C, Chan V, Hawkins B, et al. Successful mismatched sibling cord blood transplant in Hb Bart's disease. Bone Marrow Transplant. 2001;28:105-7 pubmed..3% on day +69 post transplant and declined gradually during the following year. Ten percent of hemoglobin Bart's was detected 2 months after transplant and this reflects the alpha-thalassemia trait of the donor. ..
- Olivieri N, Chang L, Poon A, Michelson A, Orkin S. An alpha-globin gene initiation codon mutation in a black family with HbH disease. Blood. 1987;70:729-32 pubmed..7) deletion chromosome. This mutation abolished an Ncol restriction site and therefore is detectable in genomic DNA by Southern blot analysis. ..
- Clegg J, Weatherall D, Milner P. Haemoglobin Constant Spring--a chain termination mutant?. Nature. 1971;234:337-40 pubmed
- McBride K, Snow K, Kubik K, Fairbanks V, Hoyer J, Fairweather R, et al. Hb Dartmouth [alpha66(E15)Leu-->Pro (alpha2) (CTG-->CCG)]: a novel alpha2-globin gene mutation associated with severe neonatal anemia when inherited in trans with Southeast Asian alpha-thalassemia-1. Hemoglobin. 2001;25:375-82 pubmed..The mother, of Khmer ancestry, is heterozygous for alpha-thalassemia-1. The father, who is of Scottish-Irish ancestry, is a silent carrier of the codon 66 mutation. The twins had severe neonatal anemia requiring transfusion. ..
- Wajcman H, Prehu C, Bardakdjian Michau J, Prome D, Riou J, Godart C, et al. Abnormal hemoglobins: laboratory methods. Hemoglobin. 2001;25:169-81 pubmed..DNA studies are also developed in many laboratories. Final identification of a variant may be achieved either by molecular biology techniques or by protein sequence analysis in which mass spectrometry now occupies a key position. ..
- Traeger Synodinos J, Harteveld C, Kanavakis E, Giordano P, Kattamis C, Bernini L. Hb Aghia Sophia [alpha62(E11)Val-->0 (alpha1)], an "in-frame" deletion causing alpha-thalassemia. Hemoglobin. 1999;23:317-24 pubmed..The final result is an alpha-thalassemia phenotype rather than an unstable hemoglobin syndrome. This conclusion is supported by the apparent absence of an abnormal alpha chain in the peripheral blood of the patient. ..
- de Jong W, Meera Khan P, Bernini L. Hemoglobin Koya Dora: high frequency of a chain termination mutant. Am J Hum Genet. 1975;27:81-90 pubmed..Hb DK resembles the previously described Hb Constant Spring [6, 7] in many aspects, probably also in its alpha thalassemia-like expression. ..
- Fucharoen S, Winichagoon P, Wisedpanichkij R, Sae Ngow B, Sriphanich R, Oncoung W, et al. Prenatal and postnatal diagnoses of thalassemias and hemoglobinopathies by HPLC. Clin Chem. 1998;44:740-8 pubmed..This automated HPLC system is an alternative approach to the diagnosis of complicated thalassemia syndromes in Thailand and Southeast Asia. ..
- Dame C, Albers N, Hasan C, Bode U, Eigel A, Hansmann M, et al. Homozygous alpha-thalassaemia and hypospadias--common aetiology or incidental association? Long-term survival of Hb Bart's hydrops syndrome leads to new aspects for counselling of alpha-thalassaemic traits. Eur J Pediatr. 1999;158:217-20 pubmed..On the basis of our findings, we speculate that an unknown gene on chromosome 16 responsible for genital formation is altered in homozygous alpha-thalassaemia. ..
- Sanchaisuriya K, Fucharoen G, Fucharoen S. Hb Paksé [(alpha2) codon 142 (TAA-->TAT or Term-->Tyr)J in Thai patients with EAbart's disease and Hb H Disease. Hemoglobin. 2002;26:227-35 pubmed..Using this allele specific PCR as a screening method, five additional individuals with Hb Paksé were found among 71 Thai subjects previously thought to have Hb CS. ..
- Zorai A, Harteveld C, Bakir A, Van Delft P, Falfoul A, Dellagi K, et al. Molecular spectrum of alpha-thalassemia in Tunisia: epidemiology and detection at birth. Hemoglobin. 2002;26:353-62 pubmed..5% of the alleles. No alpha0-thal alleles were found among the 304 blood samples studied at the DNA level during this survey. ..
- Huisman T. Combinations of beta chain abnormal hemoglobins with each other or with beta-thalassemia determinants with known mutations: influence on phenotype. Clin Chem. 1997;43:1850-6 pubmed..Simplification and commercialization of modern technology may make the introduction of this approach in some clinical chemistry laboratories possible. ..
- Viprakasit V, Tanphaichitr V, Pung Amritt P, Petrarat S, Suwantol L, Fisher C, et al. Clinical phenotypes and molecular characterization of Hb H-Paksé disease. Haematologica. 2002;87:117-25 pubmed..Analysis of mismatched-PCR-RFLP, described here, was shown to provide an unequivocal diagnosis and will be applicable in population screening programs. ..
- Sanguansermsri T, Matragoon S, Changloah L, Flatz G. Hemoglobin Suan-Dok (alpha 2 109 (G16) Leu replaced by Arg beta 2): an unstable variant associated with alpha-thalassemia. Hemoglobin. 1979;3:161-74 pubmed..This hemoglobin mutant has not been described before and is named Hemoglobin Suan-Dok. ..
- Hladik A, Lynshue K. Dyshemoglobinemias and pulse oximetry: a therapeutic challenge. J Pediatr Hematol Oncol. 2008;30:850-2 pubmed publisher..These values were significantly lower than physical examination suggested. A possible dyshemoglobinemia should be suspected when discordance exists between pulse oximetry readings and physical examination findings. ..
- Rumi E, Passamonti F, Pagano L, Ammirabile M, Arcaini L, Elena C, et al. Blood p50 evaluation enhances diagnostic definition of isolated erythrocytosis. J Intern Med. 2009;265:266-74 pubmed publisher..This study suggests that the investigation of blood p50 level may be useful to define diagnosis in patients with isolated erythrocytosis. ..
- Charoenkwan P, Taweephol R, Sirichotiyakul S, Tantiprabha W, Sae Tung R, Suanta S, et al. Cord blood screening for alpha-thalassemia and hemoglobin variants by isoelectric focusing in northern Thai neonates: correlation with genotypes and hematologic parameters. Blood Cells Mol Dis. 2010;45:53-7 pubmed publisher..IEF was a reliable method for neonatal cord blood screening for alpha-thalassemia and Hb variants. ..
- Darwish H, El Khatib F, Ayesh S. Spectrum of beta-globin gene mutations among thalassemia patients in the West Bank region of Palestine. Hemoglobin. 2005;29:119-32 pubmed..The association between the identified mutations and the corresponding genotypes of our patients with specific polymorphism frameworks in the beta-globin gene was performed and the results revealed linkage disequilibrium. ..
- Brennan S, Chan T, Beard M. Hemoglobin Hagley Park: a novel (alpha82Ala-->Thr) substitution identified in an infant with severe hemolytic anemia. Clin Chem. 2007;53:1718-9 pubmed
- Kumar S, Rana M, Handoo A, Saxena R, Verma I, Bhargava M, et al. Case report of HbC/beta(0)-thalassemia from India. Int J Lab Hematol. 2007;29:381-5 pubmed..To the best of our knowledge, this is the first confirmed report of HbC from India. The paper discusses the hematological findings in this subject and her mother (a compound heterozygote for HbD(Punjab) and HbC). ..
- Waye J, Walker L, Nakamura L, Eng B, McFarlane A. Hb North York [beta 117(G19)His-->Asp]: a new beta chain hemoglobin variant. Hemoglobin. 2009;33:51-3 pubmed publisher..Sequence analysis demonstrated that the Hb variant was due to a missense mutation at amino acid codon 117 (CAC>GAC, His-->Asp) of the beta-globin gene. ..
- Modell B, Darlison M, Birgens H, Cario H, Faustino P, Giordano P, et al. Epidemiology of haemoglobin disorders in Europe: an overview. Scand J Clin Lab Invest. 2007;67:39-69 pubmed..These include methods for needs assessment, service standards, education and information strategies and materials, and methods for evaluating service delivery. ..
- Yalamati P, Jones B, Twomey P. Appropriateness of the National Academy of Clinical Biochemistry recommendation of repeating HbA1c analysis for extreme results in clinical practice. Ann Clin Biochem. 2009;46:165-6 pubmed publisher..On the basis of this finding, we recommend that laboratories consider local factors when deciding whether to comply with the NACB guidelines. ..
- Masala B, Musino L, Pirastru M, Manca L. The C-->G transition in the alpha 2-globin gene of a normal alpha alpha-chromosome is responsible for the Hb G-Philadelphia variant in Sardinians. Eur J Haematol. 2004;72:437-40 pubmed
- Teawtrakul N, Sirijirachai C, Chansung G, Fucharoen G. Compound heterozygous Hb Tak/Hb E causes secondary erythrocytosis in a Thai family. Hemoglobin. 2010;34:165-8 pubmed publisher..We report a Thai family with a compound heterozygosity for Hb Tak [beta147 (+ AC)] and Hb E [beta26(B8)Glu-->Lys] which displayed an asymptomatic erythrocytosis. ..
- Chakrabarti P, Dash D, Panda B. Detection of Ggamma(Agammadeltabeta)0 thalassemia in North India. Clin Chim Acta. 2006;364:363-4 pubmed
- Srisupundit K, Piyamongkol W, Tongsong T. Identification of fetuses with hemoglobin Bart's disease using middle cerebral artery peak systolic velocity. Ultrasound Obstet Gynecol. 2009;33:694-7 pubmed publisher..MCA-PSV assessment in mid-pregnancy is a useful method for identifying Hb Bart's disease with high sensitivity and specificity among fetuses at risk, and may allow avoidance of unnecessary cordocentesis in some cases. ..
- Raat N. Effects of recombinant-hemoglobin solutions rHb2.0 and rHb1.1 on blood pressure, intestinal blood flow, and gut oxygenation in a rat model of hemorrhagic shock. J Lab Clin Med. 2005;146:304-5 pubmed
- Lavalard E, Szymezak J, Leroy N, Gillery P. [Evaluation of Variant II analyzer equipped with the new 270-2101 NU kit (Bio-Rad) for HbA 1c assay]. Ann Biol Clin (Paris). 2009;67:55-65 pubmed publisher..As the control of analytic quality is a major element for validation and clinical use of HbA(1c) results, the characteristics of this new method make it a well-suited tool for daily laboratory practice. ..
- Cuccia L, Saieva L, Borsellino Z, Marocco M, Ruffo G, Riou J, et al. Hb Hinwil [beta38(C4)Thr-->Asn, ACC>AAC] associated with beta0-thalassemia in a Sicilian child. Hemoglobin. 2008;32:582-7 pubmed publisher..We discuss diagnostic, clinical, prognostic, and therapeutic aspects of this rare condition, underlining the extreme difficulty in choosing therapeutic options because of a lack of similar reports in the literature. ..
- Carnley B, Prior J, Gilbert A, Lim E, Devenish R, Sing H, et al. The prevalence and molecular basis of hemoglobinopathies in Cambodia. Hemoglobin. 2006;30:463-70 pubmed..7 and Hb E) were not clinically significant. On the basis of these findings, and with the majority of abnormalities being mild, it seems improbable that thalassemia represents a major health burden in this region of Cambodia. ..
- Harteveld C, van Helden W, Boxma G, Van Delft P, Bakker Verweij M, Wajcman H, et al. Hb Zoetermeer: a new mutation on the alpha2 gene inducing an Ala-->Ser substitution at codon 21 is possibly associated with a mild thalassemic phenotype. Hemoglobin. 2007;31:325-32 pubmed..Nevertheless, we cannot exclude that the mutation could induce the observed hematological abnormalities and could eventually be considered as a mutation associated with a mild alpha-thalassemic phenotype. ..
- Bouva M, Harteveld C, Van Delft P, Giordano P. Known and new delta globin gene mutations and their diagnostic significance. Haematologica. 2006;91:129-32 pubmed..118C->T (d -68 C->T) has no homology on the beta-globin gene (HBB, MIM# 141900). All mutations caused a low HbA2 level and through this could lead to misdiagnosis when inherited together with a beta-thalassemia. ..
- Kapoor D, Ng J, Jones T. Falsely high glycated haemoglobin [HbA1C] because of haemoglobin OSU-Christiansborg. Clin Lab Haematol. 2005;27:334-5 pubmed..However, her HbA1c continued to remain high at 20.4%. Subsequent tests revealed that she had a haemoglobin variant, Haemoglobin Osu-Christiansborg, causing the falsely high glycated haemoglobin. ..
- Kifude C, Polhemus M, Heppner D, Withers M, Ogutu B, Waitumbi J. Hb Kenya among Luo adults and young children in malaria holoendemic Western Kenya: screened by high performance liquid chromatography and confirmed by polymerase chain reaction. Hemoglobin. 2007;31:401-8 pubmed..2%), may suggest the presence of Hb Kenya. However, given the inability of differentiating Hb Kenya from a truly elevated Hb A(2) by routine cation exchange HPLC, it is imperative to confirm the Hb Kenya mutation by gap-PCR. ..
- Badens C, Paolasso C, Fossat C, Wajcman H, Thuret I. Compound heterozygosity for unstable hemoglobin Genova and beta(o)-thalassemia associated with early onset of thalassemia major syndrome. Haematologica. 2005;90:ECR04 pubmed..This association leads to the most severe clinical course involving an unstable variant, reported so far. ..
- Schnedl W, Lahousen T, Krause R, Wallner S, Piswanger Soelkner C, Lipp R. Evaluation of conditions associated with glycated hemoglobin values below the reference range. Clin Lab. 2007;53:179-81 pubmed
- Tongsong T, Tongprasert F, Srisupundit K, Luewan S. High fetal splenic artery peak velocity in fetuses with hemoglobin Bart disease: a preliminary study. J Ultrasound Med. 2009;28:13-8 pubmed..Further studies to evaluate the effectiveness of the SPA PSV in differentiating affected from unaffected fetuses among pregnancies at risk are desirable. ..
- Gómez Cruz Z, Pérez Molina J, Panduro Barón J, Fletes Rábago V, Vásquez Garibay E, Troyo Sanroman R, et al. [Associated factors to abnormal glucosylated hemoglobin in the postpartum period]. Ginecol Obstet Mex. 2005;73:591-5 pubmed..It is necessary to make an early detection of risk factors associated to abnormal glucosylated hemoglobin and to prevent adverse effects as congenital malformations and clinical complications that increase the incidence of caesarean. ..
- Prehu C, Pissard S, Al Sheikh M, Le Niger C, Bachir D, Galacteros F, et al. Two French Caucasian families with dominant thalassemia-like phenotypes due to hyper unstable hemoglobin variants: Hb Sainte Seve [codon 118 (-T)] and codon 127 [CAG-->TAG (Gln-->stop]). Hemoglobin. 2005;29:229-33 pubmed..These two observations are additional evidences of the important role played by helix H in Hb stability: its partial absence, or a large structural modification, seems to be the major reason for the hyper instability of such molecules. ..
- Beneitez Pastor D, Carrera A, Duran Suárez J, Pastor M, Vinent F, Melich C. Hematological and molecular characteristics of Hb Sarrebourg [beta131(H9)Gln-->Arg (CAG-->CGG)] found in a Spanish family. Hemoglobin. 2007;31:183-5 pubmed..All the carriers were heterozygous for the variant and hematologically normal. Up to now this hemoglobin (Hb) variant has only been reported once before, in a boy of Turkish origin. ..
- Srinivas U, Pati H, Saxena R. Hemoglobin D-Punjab syndromes in India: a single center experience on cation-exchange high performance liquid chromatography. Hematology. 2010;15:178-81 pubmed publisher..HbDP syndromes are not uncommon and are relatively underdiagnosed. CE-HPLC has the advantage of rapid detection and accurate quantitation. Electrophoresis and CE-HPLC can be complementary in making accurate diagnosis of these entities. ..