Three sickle cell anemia patients each with a different alpha chain variant. Diagnostic complications.

Abstract

We have studied three sickle cell anemia patients who also carried a heterozygosity for one of the following alpha chain abnormalities: Hb G-Philadelphia [alpha 68(E17)Asn-->Lys], Hb Montgomery [alpha 48 (CE6)Leu-->Arg], and Hb Chicago [alpha 136(H19)Leu-->Met]. Electrophoretic analyses alone may result in incomplete and incorrect information. Confirmation of the diagnosis of Hb SS or Hb SC disease by one of the fast high performance liquid chromatographic procedures is recommended.

• Authors: L H Gu, J B Wilson, T P Molchanova, K M McKie, V C McKie, T H Huisman
• Journal: Hemoglobin (Hemoglobin) Vol. 17 Issue 4 Pg. 295-301 (Aug 1993) ISSN: 0363-0269 [Print] England
• PMID: 8226092 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Chicago
• hemoglobin Montgomery
• Globins
• hemoglobin G Philadelphia

Topics

• Adult
• Anemia, Sickle Cell (complications, genetics)
• Blood Protein Electrophoresis
• Child
• Child, Preschool
• Chromatography, High Pressure Liquid
• Female
• Globins (genetics)
• Hemoglobinopathies (complications, diagnosis, genetics)
• Hemoglobins, Abnormal (genetics)
• Heterozygote
• Humans
• Isoelectric Focusing