Effects on Bone, on Vitamin D, and Calcium Metabolism
Lars Friberg, Tord Kjellström, Carl-Gustaf Elinder, Gunnar F. Nordberg in Cadmium and Health: A Toxicological and Epidemiological Appraisal, 2019
Most of the patients in the Fuchu area were postmenopausal women who had had several pregnancies. No hereditary factors were implicated. X-ray investigations show severely decalcified bones and in many cases fractures; some of these may be partly or fully developed “pseudofractures” (Figure 12). Pathological investigations at autopsy have found various degrees of osteoporosis and osteomalacia in almost all Itai-itai disease patients studied (Chapter 9, Table 6 and Appendix). Clinical chemistry of the blood showed a very high level of alkaline phosphatase and slightly lowered levels of serum calcium and phosphorus. This is in agreement with a diagnosis of osteomalacia. Hypochromic anemia and low serum iron were found in many of the early patients. This may have increased their uptake of cadmium from the intestines (Chapter 6, Section II.B.3.e) and thereby increased their susceptibility to severe cadmium poisoning.
The Ferrochelatase Deficiency (Fechm1Pas) Mutation, Chromosome 18
John P. Sundberg in Handbook of Mouse Mutations with Skin and Hair Abnormalities, 2020
In humans, erythropoietic protoporphyria (EPP) is associated with reduced activity of ferrochelatase.2,5 The disease is characterized by cutaneous photosensitivity. A mild microcytic, hypochromic anemia is observed in a minority of cases. Fatalities from rapidly progressive liver disease have been reported in at least 20 patients,2,6 which is an indication for liver transplantation.7–10 Biochemically, EPP results in the accumulation of protoporphyrin in erythrocytes, plasma, and feces. EPP is generally assumed to be an autosomal dominant hereditary condition,2,11 but it may be inherited, in some cases, in an autosomal recessive fashion.12–14 Four human mutations have been described so far.15–17
Ferrihemoglobin in Normal Blood
Manfred Kiese in Methemoglobinemia: A Comprehensive Treatise, 2019
In the blood of patients with iron deficiency anemia, Ramachandran and Iyer250 found more ferrihemoglobin reductase per red cell than in normal blood. Earlier Kleihauer et al.2314 had found that red cells of subjects with hypochromic anemia reduce the same amount of ferrihemoglobin per hour as normal red cells. Thus, cells with less hemoglobin regenerate their hemoglobin more rapidly than normal cells if a certain portion of the hemoglobin is oxidized to ferrihemoglobin. The reduction of ferrihemoglobin in duck red cells has been studied by Rostorfer248 and found to exceed the rate of reduction in mammalian red cells.
Regulatory Mutation Study in Cases with Unsolved Hypochromic Microcytic Anemia and α-Major Regulatory Element Haplotype Analysis in Iran
Published in Hemoglobin, 2021
Sara Alimohammadi-Bidhendi, Sarah Azadmehr, Masoumeh Razipour, Sirous Zeinali, Maryam Eslami, Elham Davoudi-Dehaghani
So far, changes in the noncoding regulatory regions such as promoter have been reported in some cases of α-thal [14]. Studies have shown that in addition to the promoter, a highly conserved α-major regulatory element (α-MRE, also known as multi-species conserved sequence 2 or MCS-R2), that lies 40 kb upstream of the α-globin locus [which is why it is also called hypersensitive-40 (HS-40)] is essential for α-globin gene expression [15]. Studies have shown that a regulatory single-nucleotide polymorphism (SNP) (CR062116) ∼6 kb upstream of the HBM gene and an SNP in the NPRL3 gene (rs7203560) can also decrease the expression of α-globin genes [13,16–18]. Despite research conducted on this subject, the cause of microcytic hypochromic anemia still remains unknown in a few cases. Therefore, it seems that more research is needed in this area.
Thalassemia in Asia 2021 Thalassemia in Brunei Darussalam
Published in Hemoglobin, 2022
Seow-Chin Chong, Sofian Metassan, Noorainun Yusof, Roserahayu Idros, Norehan Johari, Ihsan N. Zulkipli, Hazim Ghani, Mei-Ann Lim, Surita Taib, Zen-Huat Lu, Mas R.W. Abdul-Hamid
Thalassemia has been well-researched and documented in neighboring countries such as Malaysia, Thailand, Philippines, Singapore, Indonesia and Vietnam. The combinations of various Hb variants lead to many different thalassemia genotypes [10]. The various thalassemia genotypes express different symptoms and severity. The clinical manifestations may not be observable in some mild cases unless detected during routine blood tests but the severe forms can even result in failure to thrive [11]. These manifestations are variable ranging from mild hypochromic anemia to moderate hematological disease to severe, lifelong, transfusion-dependent anemia with organ malfunctions [12]. Generally, thalassemia can be broadly classified into α- and β-thalassemia (α- and β-thal) or the rare hereditary persistence of fetal Hb (HPHF), depending on the underlying defective globin chain. Clinically, α- and β-thalassemias may occur in homozygous, intermediate or minor genetic forms and may also form interactions with other Hb variants within the same patient [13].
Detection of a Large Novel α-Thalassemia Deletion in an Autochthonous Belgian Family
Published in Hemoglobin, 2019
Laura Heireman, Ariane Luyckx, Katrien De Schynkel, Annelies Dheedene, Mélanie Delaunoy, Anne-Sophie Adam, Béatrice Gulbis, Johan Dierick
Hematological analyses of patient 1 revealed a mild microcytic hypochromic anemia with normal iron status profile (Table 1). Hemoglobin electrophoresis showed normal Hb F and Hb A levels, while the result for Hb A2 was in the low limit of the reference values, suggesting an α-thal. Five other individuals of the family over three generations were also diagnosed with α-thal trait (patients 2, 4, 5, 6 and 7) (Table 1). They showed a mild microcytic hypochromic anemia with normal iron status profile. Results of Hb electrophoresis (Sebia, Norcross, GA, USA) showed normal Hb F with decreased or values in the low limit of the reference range for Hb A2 and normal or slightly increased Hb A, suggesting α-thal. However, α-thal trait was suspected in patient 3 in relation to the observed inheritance pattern.
Related Knowledge Centers
- Anemia
- Indigestion
- Iron Deficiency
- Mean Corpuscular Hemoglobin Concentration
- Microcytic Anemia
- Headache
- Hemoglobin
- Red Blood Cell
- Mean Corpuscular Hemoglobin
- Thalassemia