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"In vivo" and "in vitro" demonstration of hemoglobin C crystals in non-splenectomized patients
J T Araújo1, A C Batissoco, L Bodemeier
1Laboratório de Diagnóstico e Investigação das Hemoglobinopatias e Talassemias do Instituto de Medicina Tropical de São Paulo, HCFMUSP, São Paulo, SP, Brasil.
Insights
Free hemoglobin C (Hb C) crystals are found in the peripheral blood of homozygotes and can be induced in heterozygotes with salt. This crystal detection aids in diagnosing Hb C disease without electrophoresis.
Area of Science:
- Hematology
- Medical Diagnostics
Background:
- Hemoglobin C (Hb C) disorders are inherited blood conditions.
- The presence and detection of Hb C crystals are key diagnostic indicators.
Purpose of the Study:
- To investigate the presence of free Hb C crystals in peripheral blood of homozygotic and heterozygotic carriers.
- To evaluate the utility of salt-induced crystal formation for Hb C diagnosis.
- To explore the relationship between Hb C crystals, splenomegaly, and splenic function.
Main Methods:
- Studied 12 individuals with Hb C (4 homozygotes Hb CC, 8 heterozygotes Hb AC/SC).
- Observed free crystals in peripheral blood smears.
- Induced crystal formation using 3% NaCl incubation.
- Assessed for splenomegaly and noted Hb F levels.
Main Results:
- Free Hb C crystals were present in peripheral blood of homozygotes (Hb CC) but not heterozygotes.
- Salt incubation induced crystal formation in both heterozygotes (Hb AC, Hb SC) and homozygotes (Hb CC).
- Elevated fetal hemoglobin (Hb F) in one patient inhibited crystal formation; homozygotes exhibited splenomegaly.
Conclusions:
- Salt-induced Hb C crystal detection is a viable method for diagnosing Hb C carriers, including heterozygotes.
- Splenomegaly in homozygotes may relate to splenic insufficiency, allowing crystal passage into peripheral blood.
- Peripheral blood crystal detection can obviate the need for electrophoresis in Hb C diagnosis.
Abstract:
We studied 12 Hb C carriers: 4 homozygotic Hb CC and 8 heterozygotic. We observed the presence of free crystals in the peripheral blood of the homozygotes but in none of the heterozygotes. However, after incubation with 3% NaCl we were able to detect crystals in the heterozygotes (Hb AC and Hb SC), and in the homozygotes (Hb CC). In patient 04 (P04) less crystals formation occurred due to inhibition of the process by the presence of elevated levels of Hb F (12.2%). All the homozygotic patients had a splenomegaly of 3 to 6 fingerbreadths. We believe that the spleen wears off with time, thus allowing the passage of crystals to the peripheral blood. This finding might be associated with splenic insufficiency without a reduction of its dimensions. Finally, the finding of crystals in the peripheral blood permitted the diagnosis of Hb C obviating the need for electrophoresis.