HPFHHereditary Persistence of Fetal Hemoglobin
HPFHHeterocellular Persistence of Fetal Hemoglobin
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Sickle-[([delta][beta]).sup.0]-thalassemiais different from compound heterozygosity for HbS and gene-deletion hereditary persistence of fetal hemoglobin (HPFH), which is typically asymptomatic.
[7] Nonstandard abbreviations: SCD, sickle cell disease; IFF, isoelectric focusing; Hb, hemoglobin; MS/MS, tandem mass spectrometry; HPFH, hereditary persistence of fetal hemoglobin; HbF, fetal Hb; GA gestational age.
Weatherall, "Hereditary persistence of fetal hemoglobin (HPFH) and Sfi thalassemia," British Journal of Haematology, vol.
In female patients of childbearing age, a determination of pregnancy status in patients with elevated hemoglobin F levels may help in differentiating pregnancy-associated hemoglobin F increases from hereditary persistence of fetal hemoglobin (HPFH).
Hemoglobinopathies are a heterogeneous group of congenital defects involving the hemoglobin variants, thalassemias and hereditary persistence of fetal hemoglobin (HPFH).
Entre las hemoglobinopatias, grupo heterogeneo de alteraciones congenitas, destacan: las variantes de hemoglobina, las talasemias y la persistencia hereditaria de hemoglobina fetal (HPFH).
PALABRAS CLAVE / Haplotipos del Gen [beta]-globina / Hemoglobinopatias / HPFH / Talasemia / Variantes de Hemoglobina /
Entre as hemoglobinopatias, grupo heterogeneo de alteracoes congenitas, desatacam: as variantes de hemoglobina, as talassemias e a persistencia hereditaria de hemoglobina fetal (HPFH).
of Cases Percentage Arthralgia 5 45.45% Pallor 2 18.18% Pallor Mass Per Abdomen 1 9% Pallor, Breathlessness (CHF) 1 9% Fever, Chest Pain 1 9% Pallor, Arthralgia 1 9% Quantification of Haemoglobin Variants Based on HPLC Analysis Sickle Hb Variant Thalassemia Thalassemia Sickle Cell Cell HPFH Major Minor Anaemia Disease Hb A (%) 0.1-81.1 93.9 0.0-34.9 24.3-74.2 0.4 Hb A2 (%) 2-3.8 5.7 1.0-7.6 2.8-4.7 0.0 Hb F (%) 17.9-97.9 0.5 7.3-42.7 0.7-18.9 99.6 Hb S (%) 0.0 0.0 51.0-83.3 22.3-58.7 0.0 Age Distribution of Children at 1st Transfusion Age at 1st Transfusion 0-2 yrs.
Hereditary Persistent Fetal Hemoglobin (HPFH) patients have high HbF, above 20%, and severe blood disorders such as E Beta-thalassemia or Sickle Beta-thalassemia need to be properly diagnosed and treated.
anemia SS 65 FS FS Severe (by one year) * SC 25 FSC FSC Mild-Moderate (by one years) S 8 FSA or FS FSA Mild-Moderate [beta]-plus (by two thalassemia years) S 2 FS FS Severe (by one [beta]-zero year) thalassemia S HPFH 1 FS FS None Hematologic studies by two years Disorder MCV Hemoglobin Hemoglobin [A.sub.2] F % (%) SS Normal or <3.5 <25 Increased SC Normal or <3.5 <15 Decreased S Decreased >3.5 <25 [beta]-plus thalassemia S Decreased >3.5 <25 [beta]-zero thalassemia S HPFH Normal or <2.5 May be Decreased >25 All infants with Hb S detected by newborn screening should have confirmatory tests of a second blood sample prior to 2 months of age, to allow early detection of sickle-cell disease.
Sickle-cell anemia [Beta] globin Hemoglobin C disease [Beta] globin Hemoglobin SC disease [Beta] globin Hemoglobin E disease [Beta] globin Hemoglobin D disease [Beta] globin [Beta] thalassemias [Beta] globin [Alpha] thalassemias [Alpha] globin Hereditary persistence [Gamma] globin of fetal hemoglobin (HPFH) Hemoglobinopathies associated with [Alpha] chain predominantly unstable hemoglobins