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Blood transfusion and rhesus disease
Published in Michael J. O’Dowd, The History of Medications for Women, 2020
It is a truism that blood transfusion had a major impact on the materia medica of women in the twentieth century, sufficient to promote the life-supporting red liquid to the ranks of an ambrosia for mere mortals. The medical historian Harvey Graham (a pseudonym for an eminent British surgeon and medical writer) declared that ‘Blood transfusion may be said to have solved the problems of haemorrhage. Its effects have been most dramatic in cases of postpartum haemorrhage’. Blood transfusion ‘also proved its worth in cases of placenta praevia ... [and] whenever caesarean section is performed’ (Graham, 1950). Transfusion was a life-saver in many cases of maternal hemorrhage and of course many infants affected by congenital hemolytic anemia were rescued by exchange blood transfusion. In the ‘developed’ world the availability of antibiotics and blood replacement therapy reduced maternal mortality rates from almost 800 per 100 000 births in the 1920s to less than 20 per 100 000 in the late 1980s.
Rheology of the Hemolytic Anemias
Published in Gordon D. O. Lowe, Clinical Blood Rheology, 2019
Rheological abnormalities of erythrocytes are commonly found in patients with a congenital hemolytic anemia. While an abnormality of membrane rheology may be characteristic of a particular disease (membrane loss in spherocytosis or membrane fragmentation in pyropoikilocytosis), it is evident that any one rheological abnormality can be caused by a variety of protein defects. Furthermore, once an erythrocyte becomes Theologically compromised, additional changes may occur in vivo secondary to stasis, splenic conditioning, or high shear stress in the microcirculation. Secondary metabolic changes including increased K+ efflux Ca2+ accumulation, alteration of membrane lipid, and oxidant stress may add further to the rheological abnormality.
Hereditary red blood cell membrane defects. Detection of PIEZO1 mutations associated with SPTA1 mutations. An unusual clinical case of hereditary xerocytosis
Published in Pediatric Hematology and Oncology, 2020
Carmelo Fortugno, Eulalia Galea, Renato Cantaffa, Francesco Gigliotti, Rachele Lucia Fabiano, Valentina Talarico, Giuseppe Raiola, Maria Concetta Galati
We are dealing with a very complex case. The only certainty at the moment is the diagnosis of Hereditary xerocytosis linked to the PIEZO1 mutation. Phenotypically, the case has Hereditary spherocytosis characteristics. For a more accurate diagnosis it would be useful to know, if the two SPTA1 mutations were inherited in cis or in trans, but the parents refuse to undergo any further investigation at the moment. It appears that the multiple mutations found have an additive impact on the phenotypic manifestations and makes some considerations necessary. In particular: 1) Although it is known that the need for transfusions in patients with congenital hemolytic anemia tends to decrease beyond the first year of life, this case we are not able to predict whether the presence of two concomitant conditions can determine a prolonged transfusion-dependence. 2) Hereditary xerocytosis is notoriously associated with a greater tendency to iron overload, regardless of the transfusion load. This makes an optimal chelation program guided by the ferritin values indispensable and, as soon as possible, by instrumental investigations that evaluate the visceral iron accumulation (T2* MRI). 3) Therapeutic splenectomy is contra-indicated in Hereditary xerocytosis because it could significantly increase the risk of deep vein thrombosis without an appreciable increase in hemoglobin levels. However in our case it will be carefully evaluated as a therapeutic option, carefully evaluating the risk/benefit ratio.
Tokyo-1 Mutation: Hereditary Spherocytosis in a Hispanic Newborn Presenting as Early Onset Severe Hyperbilirubinemia
Published in Fetal and Pediatric Pathology, 2018
April W. Tan, Pablo Leung, Uday P. Patil
Hereditary spherocytosis is a type of congenital hemolytic anemia secondary to defective red cell membrane proteins. It is the most common hemolytic anemia in the northern European population, with a prevalence of about 1 in 2000 [1,2], but has commonly been reported in other ethnic groups as well [3–5]. Hereditary spherocytosis has infrequently been reported in Hispanic patients, including only one case series about Hispanic twins who presented with neonatal hyperbilirubinemia and were diagnosed with hereditary spherocytosis, leading to further diagnoses of hereditary spherocytosis in their family members [6,7].
Identification of a de novo ANK1 mutation in a Chinese family with hereditary spherocytosis
Published in Hematology, 2018
Hongzai Guan, Xinping Liang, Rong Zhang, Haiyan Wang, Wenmiao Liu, Ru Zhang, Jie Yang, Shiguo Liu
As the most common congenital hemolytic anemia due to membrane protein defects [11,12], HS is a group of inherited disorders with the presence of spherical-shaped erythrocytes in the peripheral blood smear [13]. The clinical findings can be compensated or severe and patients with HS may need exchange transfusion when they are born and/or repeated blood transfusions subsequently [8,9]. ANK1 is the most common causative gene defect transmitted by a dominant mode and to date, over 23 different mutations have been found among HS patients [14]. Recently, Han et al. identified a novel nonsense ANK1 mutation (p.Q1772X) in a Korean HS family which is the first report in a Korean family carrying the ANK1 mutation. The 19-year-old male patient was diagnosed with HS when he was 3 months based on spherocytosis in a peripheral blood smear. Splenectomy was performed because of splenomegaly and anemia at 6 years of age. Then, his hemoglobin levels became normal while bilirubin remained moderately elevated for several years [10]. A Chinese boy carrying a heterozygous ANK1 mutation (p.Q109X) suffered from severe HS from preterm neonatal period [15]. His RBC and hemoglobin levels were higher than the proband in our study and he received a RBC transfusion due to premature delivery. Previous studies indicated the insertion and deletion mutations in ANK1 identified in the promoter regions, 5′ and 3′ untranslated regions, and nonsense or missense substitutions in coding sequence [16]. These mutations can influence the expression or stability of the related proteins which can cooperate with ankyrin 1 and play an important role in the erythrocyte membranous-cytoskeletal network [13,17]. ANK1 mutations affect about half of all patients with HS, while the mutations in protein 4.1 gene are more common in Japan [18].