Idiopathic thrombocytopenic purpura and hypokalaemic dRTA with compensated haemolysis and striking acanthocytosis in a band 3 (SLC4A1/AE1) A858D homozygote.
Huxley H M
HH
Knox-Macaulay
Jalil Ur
JU
Rehman
Shoaib
S
Al Zadjali
Naglaa A
NA
Fawaz
Salam
S
Al Kindi
D000012:Abetalipoproteinemia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D000141:Acidosis, Renal Tubular / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D000293:Adolescent; D000409:Alanine / Q000235:genetics; D019943:Amino Acid Substitution / Q000502:physiology; D001457:Anion Exchange Protein 1, Erythrocyte / Q000235:genetics*; D001224:Aspartic Acid / Q000235:genetics; D003241:Consanguinity; D006461:Hemolysis / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007008:Hypokalemia / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D008297:Male; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000150:complications* / Q000175:diagnosis / Q000235:genetics
D001457:Anion Exchange Protein 1, Erythrocyte; C454201:SLC4A1 protein, human; D001224:Aspartic Acid; D000409:Alanine