Hb D-Iran | beta22(B4)Glu->Gln |
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CONTACT | External | ||
HEMATOLOGY | Normal in the heterozygote | ||
ELECTROPHORESIS | Hb X and Hb A readily separate at alkaline pH; excellent separation by IEF; Hb X moves about as Hb S | ||
CHROMATOGRAPHY | Hb X and Hb A can be separated by cation and anion exchange HPLC | ||
STRUCTURE STUDIES | Proteolytic digests; fingerprinting; reversed phase HPLC; amino acid analysis; sequencing by Edman degradation | ||
DNA ANALYSES | Not reported; presumed mutation GAA->CAA at codon 22 | ||
FUNCTION STUDIES | Normal | ||
STABILITY | Normal | ||
OCCURRENCE | Found in Iranian and Pakistani families; a Jamaican Black, and several families in Northern Calabria, Italy | ||
OTHER INFORMATION | Quantity in the heterozygote 36-45%; observed in combination with Hb S and with beta-thal |
REFERENCES | |||
1. | Rahbar, S.: Br. J. Haematol., 24:31, 1973. | ||
2. | Rohe, R.A., Sharma, V., and Ranney, H.M.: Blood, 42:455, 1973. | ||
3. | De Marco, E.V., Crescibene, L., Bagala, A., Brancati, C., Qualtieri, A., and Bria, M.: Hemoglobin, 18:65, 1994. |