ABSTRACT
Haemoglobinopathies are the world's most frequently found monogenic disorders. In the cases with high oxygen affinity, the decrease in the liberation of the oxygen determines a secondary erythrocytosis. In this work, we present 17 unrelated families of Caucasian race and of Spanish origin, with ten variants of haemoglobin or haemoglobinopathies with high oxygen affinity which were diagnosed in our laboratory. Of the ten haemoglobinopathies, in four (the Hb San Diego, the Hb Johnstown, the Hb Malmö and the Hb Columbia-Missouri), the change of amino acid affects zones of the contact alpha(1)beta(2); in two variants (the Hb Strasbourg and the Hb Syracuse), it affects the unions with 2,3-DPG in the central cavity; in the other two (the Hb Badalona and the Hb La Coruña), the cavity of contact with the group haem is affected; in one (Hb Bethesda), it affects the zone of contact alpha(1)beta(1;) and in one (Hb Olympia), the position 20 of the chain in the helix B in the surface of the protein is affected. In all cases, the change of amino acid, though of different form, facilitates that the quaternary structure of the haemoglobin becomes stable in its relaxed configuration so the transfer of oxygen and the P(50) value are decreased. All cases were sent to our laboratory because of shown erythrocytosis. In the majority of them, the diagnosis was done during an analysis of routine or for being relatives of the first ones.
Subject(s)
Hematologic Diseases/genetics , Hemoglobins, Abnormal/genetics , Oxygen/physiology , Adolescent , Adult , Aged , Child , Child, Preschool , Female , Genetic Variation/genetics , Hematologic Diseases/diagnosis , Hematologic Diseases/epidemiology , Humans , Male , Middle Aged , Mutation/genetics , Spain/epidemiology , Young AdultABSTRACT
Systemic mast cell disease (SMCD) is an idiopathic disorder in which mast cells proliferate and accumulate in various organs including the skin, bone marrow, liver, spleen and lymph nodes. SMCD is regarded as a myeloproliferative disorder for any authors. Associated hematologic disorders can be found in up to one third of patients with SMCD. It may be due to the apparent close relationship between the mast cell and the myeloid cell.
Subject(s)
Leukemia, Myeloid/etiology , Mastocytosis/complications , Acute Disease , Biopsy, Needle , Bone Marrow/pathology , Fatal Outcome , Humans , Leukemia, Myeloid/pathology , Male , Mastocytosis/pathology , Middle Aged , Time FactorsABSTRACT
La mastocitosis sistémica es una enfermedad en la cual los mastocitos proliferan y se acumulan en distintos tejidos como la piel, médula ósea, hígado, bazo y ganglios linfáticos. Algunos autores la consideran como un síndrome mieloproliferativo. Una tercera parte de los pacientes desarrollan otras neoplasias hematológicas, apoyando el origen mieloide del mastocito (AU)
