Rare hemoglobinopathy presenting as progressive dyspnea

American Journal of Hematology

Volumn 85, Issue 5, 2010, Pages 355-357

  Wu, Yin ^a   Ramani, Gautam V ^a   Gai, Qiwei ^a   Lemon, Latrina C ^a   Baer, Maria R ^a  

^a UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BLOOD PRESSURE; CASE REPORT; CLINICAL FEATURE; DYSPNEA; FAMILY HISTORY; FEMALE; HEMOGLOBINOPATHY; HUMAN; LABORATORY TEST; OXYGEN SATURATION; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PULSE PRESSURE; RARE DISEASE;

ADULT; AFRICAN CONTINENTAL ANCESTRY GROUP; ANOXIA; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DYSPNEA; FEMALE; HEMOGLOBINOPATHIES; HEMOGLOBINS, ABNORMAL; HUMANS; MALE; PEDIGREE;

EID: 77951562199     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.21675     Document Type: Article

References (16)

1. Beutler E.Polythemia. In:Beutler E,Lichtman MA,Coller BS,Kipps TJ, editors. Williams Hematology,6th ed. New York: McGraw Hill; 2001. p 689.
2. Lafferty JD, Waye JS, Chui DHK, et al. Good practice guidelines for laboratory investigation of hemoglobinopathies. Lab Hematol 2003;9:237-245. (Pubitemid 37527250)
3. Hardison RC, Chui DHK, Riemer C, et al. HbVar: A database of human hemoglobin variants and thalassemias (database online). Available at:http://globin. cse.psu.edu/hbvar/menu.html. Accessed December 14, 2009.
4. Keeling MM, Ogden LL, Wrightstone RN, et al. Hemoglobin Louisville (β42 (CD1) Phe→Leu): An unstable variant causing mild hemolytic anemia. J Clin Invest 1971;50:2395-2402.
5. Bratu V, Lorkin PA, Lehmann H, et al. Haemoglobin Bucuresti (β42 (CD1) Phe→Leu). A cause of unstable haemoglobin haemolytic anaemia. Biochim Biophys Acta 1971;251:1-6.
6. Villegas A, Malcorra JJ, Balda F, et al. A new Spanish family with Hb Louisville. Am J Med Genet 1989;32:9-14.
7. Smiley RK, Gravely ME, Wilsorr JB, et al. Hemoglobin Louisville (β42 (CD1) PHE LEU) occurring as a fresh mutation in a Canadian woman. Hemoglobin 1978;2:89-90.
8. Von Planta M, Humbert J, Wacker P, et al. Hypothesis for generation of the unstable Hb Bucuresti (β42 Phe→Leu) mutation. Hematol J 2001;2:61-66. (Pubitemid 32266387)
9. Stamatoyannopoulos G, Parer JT, Finch CA: Physiologic implication of a hemoglobin with decreased oxygen affinity (hemoglobin Seattle). N Engl J Med 1969;281:916-919.
10. Wilson JB, Chen SS, Webber BB, et al. The identification of five rare β-chain abnormal hemoglobins by high performance liquid chromatographic procedures. Hemoglobin 1986;10:49-63.
11. De Castro LM, Jonassaint JC, Graham FL, et al. Pulmonary hypertension associated with sickle cell disease: Clinical and laboratory endpoints and disease outcomes. Am J Hematol 2008;83:19-25.
12. Van Beers EJ, Nur E, Schaefer-Prokop CM, et al. Cardiopulmonary imaging, functional and laboratory studies in sickle cell disease associated pulmonary hypertension. Am J Hematol 2008;83:850-854.
13. Klings ES. Pulmonary hypertension of sickle cell disease: more then just another lung disease. Am J Hematol 2008;83:4-5.
14. Klings ES, Wyszynski DF, Nolan VG, Steinberg MH. Abnormal pulmonary function in adults with sickle cell anemia. Am J Respir Crit Care Med 2006;173:1264-1269.
15. Wille RT, Koyamangalath K, Cooney KA, et al. Familial association of primary pulmonary hypertension and a new low-oxygen affinity β-chain hemoglobiopathy, Hb Washtennaw. Chest 1996;109:848-850. (Pubitemid 126442284)
16. Rich S, Hart K. Familial pulmonary hypertension in association with an abnormal hemoglobin. Chest 1991;99:1208-1210.