By JAMES V. NEEL, PH.D., M.D., HARVEY A. ITANO, PH.D., M.D., AND JOHN S. LAWRENCE, M.D. I N RECENT YEARS our knowledge of the etiology of sickle cell disease has increased considerably. As a rule, both parents of a child with this disease show the sickle cell trait. This has led to the hypothesis that usually sickle cell disease is due to homozygosity for a gene which, when heterozygous, result...

The erythrocytes of certain human individuals undergo a reversible change in shape known as sickling if deprived of oxygen (1, 2). Taliaferro and Huck (3) postulated that this characteristic is transmitted by a single dominant gene, but failed to account genetically for the wide divergence in clinical signs and symptoms among individuals who possess sickling red cells. A small fraction, about 1...

Aim: To identify scientific evidence about families of children with sickle cell disease. Method: An integrative review of the search used the following descriptors: anemia sickle cell; hemoglobin SC disease; hemoglobin sickle; family; family relations; and, child. The search was carried out for literature in Portuguese, English, and Spanish. The search used databases such as MEDLINE, LILACS, C...

A prominent clinical manifestation of sickle cell disease (SCD) is hemolytic anemia. Although complement activation can lead to intravascular hemolysis, its role in the hemolysis of SCD is not known. Because normal red blood cells induced to vesiculate by treatment with calcium and ionophore become sensitive to damage by activated complement and because sickle cells release microvesicles as the...

The enhanced adhesion of sickle red blood cells (RBCs) to the vascular endothelium and subendothelial matrix likely plays a significant role in the pathogenesis of vaso-occlusion in sickle cell disease. Sickle RBCs have enhanced adhesion to the plasma and extracellular matrix protein thrombospondin-1 (TSP) under conditions of flow in vitro. In this study, we sought to develop antibodies that bi...

Pain is a hallmark feature of sickle cell anemia (SCA) but management of chronic as well as acute pain remains a major challenge. Mouse models of SCA are essential to examine the mechanisms of pain and develop novel therapeutics. To facilitate this effort, we compared humanized homozygous BERK and Townes sickle mice for the effect of gender and age on pain behaviors. Similar to previously chara...

heterozygous and homozygous states to explain the symptomless sickle cell trait and the true sickle cell anaemia. An individual receiving the haemoglobin S gene from one parent only (the heterozygous state A/S) would have the sickle cell trait, whereas if the gene should be received from both parents (the homozygous state 5/5) he would have sickle cell anaemia (Fig. I). Sickle cell anaemia and ...

Sickle cell anemia is characterized by painful vaso-occlusive crises. It is hypothesized that monocytes are activated in sickle cell disease and can enhance vasoocclusion by activating endothelium. To test this hypothesis, human umbilical vein endothelial cells (HUVEC) and human microvascular endothelial cells (MVEC) with sickle and normal mononuclear leukocytes were incubated, and endothelial ...

The purpose of this communication is to describe the necropsy findings in three patients dying of sickle cell haemoglobin C disease and two of sickle cell anaemia. In southern Ghana there is a high incidence of abnormal haemoglobins in the population, the incidence of haemoglobin S being 18% and of haemoglobin C 12% (Edington and Lehmann, 1954a). Haemoglobin G has also been described (Edington ...

By JAMES V. NEEL, PH.D., M.D., HARVEY A. ITANO, PH.D., M.D., AND JOHN S. LAWRENCE, M.D. I N RECENT YEARS our knowledge of the etiology of sickle cell disease has increased considerably. As a rule, both parents of a child with this disease show the sickle cell trait. This has led to the hypothesis that usually sickle cell disease is due to homozygosity for a gene which, when heterozygous, result...