Anemia diagnosis

Glassman AB. Anemia diagnosis and cUnical considerations. In Har-mening DM, ed. Clinical Hematology and Fundamentals of Hemostasis, 2nd ed. Philadelphia, FA Davis, 1992 54. 

TabbaralA. Hemolytic anemias diagnosis and management. Med Clin North Am 1992 76 649-669. 

Groups of Persons Susceptible to Nutritional Anemias Diagnosis of Nutritional Anemias Signs and Symptoms Laboratory Tests... 

Fohc acid is a precursor of several important enzyme cofactors required for the synthesis of nucleic acids (qv) and the metaboHsm of certain amino acids. Fohc acid deficiency results in an inabiUty to produce deoxyribonucleic acid (DNA), ribonucleic acid (RNA), and certain proteins (qv). Megaloblastic anemia is a common symptom of folate deficiency owing to rapid red blood cell turnover and the high metaboHc requirement of hematopoietic tissue. One of the clinical signs of acute folate deficiency includes a red and painhil tongue. Vitamin B 2 folate share a common metaboHc pathway, the methionine synthase reaction. Therefore a differential diagnosis is required to measure foHc acid deficiency because both foHc acid and vitamin B 2 deficiency cause... 

A person with pernicious anemia lacks intrinsic factor, a compound required for the absorption of vitamin B12 and its storage in the liver. The diagnosis is confirmed... 

Anemias, reductions in the number of red blood cells or of hemoglobin in the blood, can reflect impaired synthesis of hemoglobin (eg, in iron deficiency Chapter 51) or impaired production of erythrocytes (eg, in folic acid or vitamin Bjj deficiency Chapter 45). Diagnosis of anemias begins with spectroscopic measurement of blood hemoglobin levels. 

Laboratory investigations that aid in the diagnosis of hemolytic anemia are listed in Table 52-7. 

Saiki RK, Schare S, Faloona F Muelis KB, Horn GT, Erlich HA, Arnheim N (1985) Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia Science 1985 Dec 20, 23o(4732) i35o-i354-... 

Kleinfeld (1980) reported a case of arsine poisoning in a 31-y-old man. The exposure to arsine occurred from a leaking canister thought to be empty. The exposure duration was estimated to be 1-2 min, but no actual or estimated arsine concentrations were available. The victim presented with hematuria. On hospital admission, no intact erythrocytes were present in the urine, hematocrit was 43%, and hemoglobin was 9.8 g/ dL. The hematocrit dropped to as low as 18%, the correction of which required one unit of packed cells. Based upon the exposure history and the subject s note of a "garlicky" odor, the diagnosis was arsine-induced hemolytic anemia. Urinary arsenic was 7.2 mg/L on admission and 0.1 mg/L 4 d later. The patient was subsequently discharged. 

Suggested Alternatives for Differential Diagnosis Colics, anthrax, equine rhinopneumonitis, equine infectious anemia, equine influenza, equine encephalosis, equine viral arteritis, and piroplasmosis. Field diagnosis may be virtually impossible. 

The fibroblasts do not convert cyanocobalamin or hydroxocobalamin to methylcobalamin or adenosyl-cobalamin, resulting in diminished activity of both N5-methyltetrahydrofolate homocysteine methyltransferase and methylmalonyl-CoA mutase. Supplementation with hydroxocobalamin rectifies the aberrant biochemistry. The precise nature of the underlying defect remains obscure. Diagnosis should be suspected in a child with homocystinuria, methylmalonic aciduria, megaloblastic anemia, hypomethioninemia and normal blood levels of folate and vitamin B12. A definitive diagnosis requires demonstration of these abnormalities in fibroblasts. Prenatal diagnosis is possible. 

Rapid diagnosis is essential because anemia is often a sign of underlying pathology. 

Diagnosis of anemia of chronic disease is usually one of exclusion, with consideration of coexisting iron and folate deficiencies. Serum iron is usually decreased but, unlike iron-deficiency anemia, serum ferritin is normal or increased and TIBC is decreased. The bone marrow reveals an abundance of iron the peripheral smear reveals normocytic anemia. 

Diagnosis of anemia in pediatric populations requires the use of age- and sex-adjusted norms for laboratory values. 

Xu, K., et al., "First Unaffected Pregnancy Using Preimplantation Genetic Diagnosis for Sickle Cell Anemia," JAMA, 281, 1701-1705 (1999). 

N7. Nyman, M., Haptoglobin. Methods for determination and their value for the diagnosis of anemia. Nord. Med. 63, 540 (1960). 

The chemistry, metabolism, and clinical importance of folic acid have been the subject of many excellent reviews (A7, Gil, H14, H20, Rl). Folic acid deficiency leads to a macrocytic anemia and leucopenia. These symptoms are due to inadequate synthesis of nucleic acid. The synthesis of purine bases and of thymine, required for nucleic acid synthesis, is impaired in folic acid deficiency. Detection of folic acid activity in biologic fluids and tissues is of the utmost importance it distinguishes between the various anemias, e.g., those due to vitamin Bi2 or folic acid deficiency. Because morphology of the abnormal red cell does not help in diagnosing vitamin deficiency, one must rely on assay methods for differential diagnosis. Treatment of pernicious anemia with folic acid has led to subacute combined degeneration of the spinal cord despite... 

A vitamin is often the etiological center of a disease as vitamin Bi2 and folic acid in macrocytic anemias. Here, because of the obvious implications for diagnosis and therapy the determination of the nucleo-genic vitamins, Bi2 and folic acid, is imperative in the routine of clinical hematology. 

Saiki, R. K., Chang, C., Levenson, C. H., Warren, T. C., Boehm, C. D. etal.. Diagnosis of sickle cell anemia and (3-thalassemia with enzymatically amplified DNA and non radioactive allele-specific oligonucleotide probes. N. Engl. J. Med. 319, 537-541 (1988). 

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