Canadian Medical Guide > Diseases > Hemic and Lymphatic Diseases > Hematologic Diseases > Blood Protein Disorders > Paraproteinemias > Heavy Chain Disease Terms and Definitions

Heavy Chain Disease

Medical Definition:	A disorder of immunoglobulin synthesis in which large quantities of abnormal heavy chains are excreted in the urine. The amino acid sequences of the N-(amino-) terminal regions of these chains are normal, but they have a deletion extending from part of the variable domain through the first domain of the constant region, so that they cannot form cross-links to the light chains. The defect arises through faulty coupling of the variable (V) and constant (C) region genes.
Guide Notes:	specify the immunoglobulin fragment coord NIM, as gamma chain dis = HEAVY CHAIN DISEASE (IM) + IMMUNOGLOBULINS, GAMMA-CHAIN (NIM); ALPHA-CHAIN DISEASE see IMMUNOPROLIFERATIVE SMALL INTESTINAL DISEASE is available
Also Called:	gamma-Chain Disease,mu-Chain Disease

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