Variant Haemoglobins

Covering the 130 documented variant hemoglobins and including more than 650 high-quality, full-color digital images, this manual is an essential reference source for diagnosis in the hematology laboratory. With more than 20 years of experience in the field, the authors divide this book into four sections covering common hemoglobins of major clinical or diagnostic importance, combinations of common hemoglobins, thalassaemias and related conditions, and less common variant hemoglobins. Professor Barbara Bain, Honorary Consultant Haematologist, St Mary’s Hospital and Professor of Diagnostic Haematology, Imperial College, London, UK - Dr Barbara Wild, Consultant Clinical Scientist, Department of Haematology, King’s College Hospital, London, UK - Ms Lorraine Phelan, Senior Biomedical Scientist, Department of Haematology, St Mary’s Hospital, London, UK CONTENTS Introduction . Overview on the genetics of haemoglobins and the principles underlying the common tests that will be illustrated in the rest of the book. Common haemoglobins of major clinical or diagnostic importance . Normal adult. Normal neonate. Haemoglobin S (sickle cell haemoglobin). Haemoglobin C. Haemoglobin E. Haemoglobin D-Punjab. Haemoglobin G-Philadelphia. Haemoglobin O-Arab. Combinations of common haemoglobins . Haemoglobin S plus haemoglobin C. Haemoglobin S plus haemoglobin E. Haemoglobin S plus haemoglobin D-Punjab. Haemoglobin S plus haemoglobin G-Philadelphia. Haemoglobin S plus haemoglobin O-Arab. Thalassaemias and related conditions . Beta thalassaemia heterozygotes. Beta thalassaemia homozygote. Delta beta thalassaemia. Delta thalassaemia. Hereditary persistence of fetal haemoglobin. Alpha plus thalassaemia. Alpha zero thalassaemia. Haemoglobin H disease. Haemoglobin Bart’s hydrops. Alpha thalassaemia heterozygotes—neonate. Less common variant haemoglobins . Hb A2’ heterozygote. Hb A2’ homozygote. Hb Abruzzo b143 His-Arg. Hb Agenogi b90 Glu-Lys. Hb Alabama b39 Glu-Lys. Hb Andrew-Minneapolis b144 Lys-Asn. Hb Atago a85 Asp-Tyr. Hb Athens-GA b40 Arg-Lys. Hb Beckman b135 Ala-Asp. Hb Bushwick b74 Gly-Val. Hb Buenos Aires b85 Phe-Ser. Hb Buffalo a89 His-Gln. Hb Camden b131 Gln-Glu. Hb Hasharon and Hb City of Hope a47Asp-His, b69 Gly-Ser. Hb Caribbean b91 Leu-Arg. Hb Constant Spring and Hb Pakse chain elongations. Hb Detroit b95 Lys-Asn. Hb D Iran with b plus thalassaemia b22 Glu-Gln. Hb D Iran b22 Glu-Gln. Hb D Ouled Rabah b19 Asn-Lys. Hb Dhofar b58 Pro-Arg. Hb Deer Lodge b2 His-Arg. Hb Etobicoke a84 Ser-Arg. Hb E Saskatoon b22 Glu-Lys. Hb G Coushatta b22 Glu-Ala. Hb Hekinan a27 Glu-Asp. Hb J-Bangkok b56 Gly-Asp. Hb Helsinki b82 Lys-Met. Hb Hofu b126 Val-Glu. Hb Hope b136 Gly-Asp. Hb I a16 Lys-Glu. Hb Hinwil b38 Thr-Asn. Hb J Baltimore b16 Gly-Asp. Hb Hopkins II a112 His-Asp. Hb M Iwate a87 His-Tyr. Hb I-High Wycombe b59 Lys-Glu. Hb Marseille +1Met b2 His-Pro. Hb Hasharon a47 Asp-His. Hb Handsworth a18 Gly-Arg. Hb G Waimanalo a64 Asp-Asn. Hb G Ferrara b57 Asn-Lys. Hb G-Honolulu a30 Glu-Gln. Hb G-Norfolk a85 Asp-Asn. Hb G-Pest a74 Asp-Asn. Hb G-Siriraj b7 Glu-Lys. Hb Fort Worth a27 Glu-Gly. Hb Fontainebleau a21 Ala-Pro. Hb Johnstown b109 Val-Leu. Hb J-Norfolk a57 Gly-Asp. Hb J Iran b77 His-Tyr. Hb J Habana a71 Ala-Gly. Hb J Guantanamo b128 Ala-Asp. Hb J Calabria b64 Gly-Asp. Hb J Broussais a90 Lys-Asn. Hb G Philadelphia a68 Asn-Lys. Hb J-Paris I a12 Ala-Asp. Hb J Rappanen a90 Lys-Thr. Hb J Toronto a5 Ala-Asp. Hb Kenya hybrid. Hb Khartoum b124 Pro-Arg. Hb K Ibadan b46 Gly-Glu. Hb Koln b98 Val-Met. Hb K Woolwich b132 Lys-Gln. Hb Le Lamentin a20 His-Gln. Hb Lepore-Boston-Washington hybrid (probably move this up to thalassaemia section). Hb Luton a89 His-Leu. Hb Manitoba a102 Ser-Arg. Hb N Baltimore b95 Lys-Glu. Hb New York b113 Val-Glu. Hb Nigeria a81 Ser-Cys. Hb North Shore b134 Val-Glu. Hb C and Hb Ocho Rios b6 Glu-Lys, b52 Asp-Ala. Hb O Indonesia a116 Glu-Lys. Hb Old Dominion b143 His-Tyr. Hb Olympia b20 Val-Met. Hb Osu Christiansborg b52 Asp-Asn. Hb Ottawa a15 Gly-Arg. Hb P-Nilotic hybrid. Hb Presbyterian b108 Asn-Lys. Hb Q India a64 Asp-Asn. Hb Q Iran a75 Asp-His. Hb Q Thailand a74 Asp-His. Hb Raleigh b1 Val-Leu. Hb J Cambridge b69 Gly-Asp. Hb Russ a51 Gly-Arg. Hb San Diego b109 Val-Met. Hb Santa Clara b97 His-Asn. Hb Savaria a49 Ser-Arg. Hb Seattle b70 Ala-Asp. Hb Sherwood Forest b104 b104 Arg-Thr. Hb Shimonoseki a54 Gln-Arg. Hb Silver Springs b131 Gln-His. Hb South Florida +1 Met b1 Val-Met. Hb Spanish Town a27 Glu-Val. Hb Stanleyville II a78 Asn-Lys. Hb St Luke’s a95 Pro-Arg. Hb Tacoma b30 Arg-Ser. Hb Titusville a94 Asp-Asn. Hb Toulon a77 Pro-His. Hb Ty Gard b124 Pro-Gln. Hb Tyne b5 Pro-Ser. Hb West One a126 Asp-Gly. Hb Winnipeg a75 Asp-Tyr. Hb Yakima b99 Asp-His. Hb Zambia a60 Lys-Asn