Analysis index

2 ml EDTA-blood (additional serum ferritin evaluation is recommended to increase diagnostic relevance)

Adults:

HbA: > 95 % of total Hb
HbF: < 2,0 % of total Hb
HbA2: 2,2 – 3,2 % of total Hb

Children:

Please refer to findings report  

Screening for hemoglobinopathies (unclear, iron refractory anemia or hypochromia/microcytosis, hemolytic anemia, origin from endemic areas). In case of relevant ethnical background and a desire to have children, testing for beta-thalassemia, sickle cell anemia or other hemoglobinopathies may be of special relevance. When hemoglobinopathy is detected in a patient (male or female), the partner must also be tested. If applicable, prenatal diagnostics should be offered in the pregnancy.

Hemoglobinopathies overview: The hemoglobinopathies can be divided into

1. decreased formation of one or several globin chains (such as alpha-thalassemia and beta-thalassemia),
2. development of pathological hemoglobins (such as HbS in sickle cell disease, HbC, HbE and others),
3. developmental disorders (such as persistence of fetal hemoglobin F)

Thalassemias: The thalassemias comprise a heterogeneous group of diseases, which are generally inherited autosomal recessively and which are marked by reduced synthesis of alpha or beta globin chains (alpha-thalassemia or beta-thalassemia), which represent the main components of the normal hemoglobin (alpha₂beta₂). This synthesis defect of the alpha and beta globin chains leads to an increased formation of delta and gamma globin chains, which are not affected by the synthesis disorder and in turn lead to an increase of the hemoglobin fractions HbA2 (alpha₂delta₂) and/or HbF (alpha₂gamma₂).

Alpha-thalassemias: Alpha-thalassemia is generally attributed to a deletion of one or several alpha globin genes. The clinical presentation extends in severity from totally asymptomatic alpha-thalassemia minima with only one damaged alpha globin gene, over alpha-thalassemia minor with slight anemia and microcytosis (two damaged alpha globin genes), alpha-thalassemia intermedia or HbH disease with moderate hemolytic anemia (three damaged alpha globin genes) to alpha-thalassemia major with most severe prenatal anemia and commonly death in utero (four damaged alpha globin genes).

Beta-thalassemias: Beta-thalassemias are caused by a synthesis disorder of one or several genes of the normal beta globin chain, which can be triggered by more than 100 different point mutations. Clinical presentation reaches from clinically asymptomatic beta-thalassemia minor with only slight hypochromic microcytic anemia (one damaged beta globin gene), moderate hemolytic anemia (beta-thalassemia intermedia, two damaged beta globin genes with a certain degree of remaining synthesis or major thalassemia with HbF persistence and/or coexisting alpha-thalassemia) to the severe hemolytic type of beta-thalassemia major with two damaged beta globin genes  without synthesis (zero alleles) or with a combination of a zero allele and a beta globin gene with slight remaining synthesis.

Hemoglobinopathies in the stricter sense (Hb structural anomalies): Structural defects of alpha, beta, delta or gamma chains are generally due to point mutations and corresponding amino acid exchange. The consequences are hemoglobin products with increased aggregation tendency (such as HbS, HbC), decreased synthesis of total hemoglobin (such as HbE, Hb-lepore), increased precipitation tendency or a changed oxygen affinity.