HB Bibba OR α2136(H19)LEU→PROβ2 in a Caucasian Family from Alabama
Several members of a large Caucasian family who presented with a congenital Heinz body hemolytic anemia were found to be carriers of the unstable Hb Bibba or α2136(H19)Leu→Proβ2. Identification by protein analysis was hampered by the instability of the variant which complicated its isolation from sh...
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| Veröffentlicht in: | Hemoglobin 1995, Vol.19 (3-4), p.151-164 |
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| container_issue | 3-4 |
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| container_title | Hemoglobin |
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| creator | Prchal, J. T. Adler, B. Wilson, J. B. Baysal, E. Qin, W.-B. Molchanova, T. P. Pobedimskaya, D. D. Kazanetz, E. G. Huisman, T. H. J. |
| description | Several members of a large Caucasian family who presented with a congenital Heinz body hemolytic anemia were found to be carriers of the unstable Hb Bibba or α2136(H19)Leu→Proβ2. Identification by protein analysis was hampered by the instability of the variant which complicated its isolation from shipped blood samples. Moreover, the detection of the CTG→CCG mutation at codon 136 of the α2 gene required the substitution of dGTP by dITP during the DN A sequencing process to prevent the occurrence of secondary structures and compressions in the sequencing gel. The first Hb Bibba heterozygote, characterized in 1968 (1), is believed to be a member of this family. The clinical expression of the disease is surprisingly variable. |
| doi_str_mv | 10.3109/03630269509036935 |
| format | Article |
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T. ; Adler, B. ; Wilson, J. B. ; Baysal, E. ; Qin, W.-B. ; Molchanova, T. P. ; Pobedimskaya, D. D. ; Kazanetz, E. G. ; Huisman, T. H. J.</creator><creatorcontrib>Prchal, J. T. ; Adler, B. ; Wilson, J. B. ; Baysal, E. ; Qin, W.-B. ; Molchanova, T. P. ; Pobedimskaya, D. D. ; Kazanetz, E. G. ; Huisman, T. H. J.</creatorcontrib><description>Several members of a large Caucasian family who presented with a congenital Heinz body hemolytic anemia were found to be carriers of the unstable Hb Bibba or α2136(H19)Leu→Proβ2. Identification by protein analysis was hampered by the instability of the variant which complicated its isolation from shipped blood samples. Moreover, the detection of the CTG→CCG mutation at codon 136 of the α2 gene required the substitution of dGTP by dITP during the DN A sequencing process to prevent the occurrence of secondary structures and compressions in the sequencing gel. The first Hb Bibba heterozygote, characterized in 1968 (1), is believed to be a member of this family. The clinical expression of the disease is surprisingly variable.</description><identifier>ISSN: 0363-0269</identifier><identifier>EISSN: 1532-432X</identifier><identifier>DOI: 10.3109/03630269509036935</identifier><identifier>CODEN: HEMOD8</identifier><language>eng</language><publisher>Monticello, NY: Informa UK Ltd</publisher><subject>Anemias. 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Moreover, the detection of the CTG→CCG mutation at codon 136 of the α2 gene required the substitution of dGTP by dITP during the DN A sequencing process to prevent the occurrence of secondary structures and compressions in the sequencing gel. The first Hb Bibba heterozygote, characterized in 1968 (1), is believed to be a member of this family. The clinical expression of the disease is surprisingly variable.</description><subject>Anemias. Hemoglobinopathies</subject><subject>Biological and medical sciences</subject><subject>Diseases of red blood cells</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Medical sciences</subject><issn>0363-0269</issn><issn>1532-432X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><recordid>eNp1kE9Kw0AUxgdRsFYP4G4WLnQRnT_JTAbdtKG1QqFSLLgLbyYJnTJJyqRFegEP4E30ID2EJzGluhBx8XgPvu_34PsQOqfkmlOibggXnDChIqLaU_HoAHVoxFkQcvZ8iDo7PdgZjtFJ0ywIoUqSsIOGoz7uW60BT6Z4-84oF5cjqq7Gg9nn69vjdLL9YNhWGHACawONhQoPobRugwtfl7jnQEMJp-ioANfkZ9-7i2bDwVMyCsaT-4ekNw4sI2wVqDwLgVNGDNNa5lLHxEgR8TDLiFQgZKsYSaOYayYKXhillGS5NKGUIos576KL_d8lNAZc4aEytkmX3pbgNymPBJWxaG13e5utitqX8FJ7l6Ur2Lja_zBtbbtR6Z_qWvz2Fz7Pwa3mBnyeLuq1r9qE6f_0F9x2cas</recordid><startdate>1995</startdate><enddate>1995</enddate><creator>Prchal, J. T.</creator><creator>Adler, B.</creator><creator>Wilson, J. 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Hemoglobinopathies</topic><topic>Biological and medical sciences</topic><topic>Diseases of red blood cells</topic><topic>Hematologic and hematopoietic diseases</topic><topic>Medical sciences</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Prchal, J. T.</creatorcontrib><creatorcontrib>Adler, B.</creatorcontrib><creatorcontrib>Wilson, J. B.</creatorcontrib><creatorcontrib>Baysal, E.</creatorcontrib><creatorcontrib>Qin, W.-B.</creatorcontrib><creatorcontrib>Molchanova, T. P.</creatorcontrib><creatorcontrib>Pobedimskaya, D. D.</creatorcontrib><creatorcontrib>Kazanetz, E. G.</creatorcontrib><creatorcontrib>Huisman, T. H. J.</creatorcontrib><collection>Pascal-Francis</collection><jtitle>Hemoglobin</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Prchal, J. T.</au><au>Adler, B.</au><au>Wilson, J. B.</au><au>Baysal, E.</au><au>Qin, W.-B.</au><au>Molchanova, T. 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Moreover, the detection of the CTG→CCG mutation at codon 136 of the α2 gene required the substitution of dGTP by dITP during the DN A sequencing process to prevent the occurrence of secondary structures and compressions in the sequencing gel. The first Hb Bibba heterozygote, characterized in 1968 (1), is believed to be a member of this family. The clinical expression of the disease is surprisingly variable.</abstract><cop>Monticello, NY</cop><pub>Informa UK Ltd</pub><doi>10.3109/03630269509036935</doi><tpages>14</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0363-0269 |
| ispartof | Hemoglobin, 1995, Vol.19 (3-4), p.151-164 |
| issn | 0363-0269 1532-432X |
| language | eng |
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| source | Taylor & Francis Medical Library - CRKN; Taylor & Francis Journals Complete |
| subjects | Anemias. Hemoglobinopathies Biological and medical sciences Diseases of red blood cells Hematologic and hematopoietic diseases Medical sciences |
| title | HB Bibba OR α2136(H19)LEU→PROβ2 in a Caucasian Family from Alabama |
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